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Species: Homo sapiens
Rearrangement type: Deletions

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Deletions 5' breakpoint 3' breakpoint Deletion length - bp Deletion of replication origins Location of the deleted region Single mtDNA deletions Multiple mtDNA deletions Healthy tissues Parkinson Disease Inclusion Body Myositis Tumour Other clinical features References
Deletions 5' breakpoint 3' breakpoint Deletion length - bp Deletion of replication origins Location of the deleted region Single mtDNA deletions Multiple mtDNA deletions Healthy tissues Parkinson Disease Inclusion Body Myositis Tumour Other clinical features References
478:5160 478 5160 4681 None Inside the minor arc KSS [58; 265]
547:4443 547 4443 3895 None Inside the minor arc KSS; PEO ad/ar-PEO Aged tissues; Skin (epithelial(...) Non-melanoma skin cancer PEO-like HIV patients; Chronic(...) [14; 41; 138; 168-174; 265]
5787:13920 5787 13920 8132 None Inside the major arc KSS; PEO ad-PEO [11; 279]
5787:13924 5787 13924 8136 None Inside the major arc KSS; PEO ad-PEO Aged tissues [9; 11; 279]
5836:12662 5836 12662 6825 None Inside the major arc KSS [40]
6003:15441 6003 15441 9437 None Inside the major arc KSS [26]
6023:14424 6023 14424 8400 None Inside the major arc KSS [118]
6084:13808 6084 13808 7723 None Inside the major arc KSS [40; 265]
6124:15893 6124 15893 9768 None Inside the major arc KSS [259]
6226:13456 6226 13456 7229 None Inside the major arc KSS [118; 265]
6238:14103 6238 14103 7864 None Inside the major arc KSS [152]
6326:13990 6326 13990 7663 None Inside the major arc KSS Mitochondrial myopathy; Multis(...) [136; 137]
6329:13994 6329 13994 7664 None Inside the major arc KSS; PS; PEO Aged tissues Reye-like; MELAS; LS [9; 26; 32; 45; 119; 265]
6331:13994 6331 13994 7662 None Inside the major arc KSS Multisystemic mitochondrial di(...) [3]
6341:14005 6341 14005 7663 None Inside the major arc KSS MNGIE; ad-PEO Ptosis; Proximal limb weakness(...) [15; 40; 265; 282; 315]
7193:14596 7193 14596 7402 None Inside the major arc KSS [19]
7449:15926 7449 15926 8476 None Inside the major arc KSS; PEO [11; 15]
7491:11004 7491 11004 3512 None Inside the major arc KSS; PEO Complex I deficiency [11; 154; 265]
7506:14433 7506 14433 6926 None Inside the major arc KSS Aged tissues [6; 40]
7508:15939 7508 15939 8430 None Inside the major arc KSS Sublimons [23; 26]
7635:15440 7635 15440 7804 None Inside the major arc KSS Lowe Syndrome [141]
7669:15437 7669 15437 7767 None Inside the major arc KSS; PEO Evolution from PS; Sideroblast(...) [11; 155; 265]
7696:12365 7696 12365 4668 None Inside the major arc KSS [34]
7697:12364 7697 12364 4666 None Inside the major arc KSS Mitochondrial myopathy [34; 108]
7828:13385 7828 13385 5556 None Inside the major arc KSS [18]
7846:9749 7846 9749 1902 None Inside the major arc PEO; KSS Myoblasts [40; 160; 161]
7869:13455 7869 13455 5585 None Inside the major arc KSS [322]
7885:15698 7885 15698 7812 None Inside the major arc KSS [302]
7949:14315 7949 14315 6365 None Inside the major arc KSS [26]
7982:15504 7982 15504 7521 None Inside the major arc KSS; PEO Mitochondrial myopathy MELAS; Ptosis; Proximal limb w(...) [15; 40; 42; 43; 265]
7983:15504 7983 15504 7520 None Inside the major arc KSS [302]
8135:15340 8135 15340 7204 None Inside the major arc KSS [312]
8278:13770 8278 13770 5491 None Inside the major arc KSS [274]
8280:8290 8280 8290 9 None Inside the major arc KSS Normal tissues (polymorphism) Adrenal failure; Sensineural h(...) [53; 61-106]
8387:11364 8387 11364 2976 None Inside the major arc KSS [322]
8420:11498 8420 11498 3077 None Inside the major arc KSS [3]
8426:12894 8426 12894 4467 None Inside the major arc KSS [40]
8426:15640 8426 15640 7213 None Inside the major arc KSS Multisystemic mitochondrial di(...) [322]
8468:13446 8468 13446 4977 None Inside the major arc KSS; PEO Inclusion body myositis [11; 24; 44]
8475:14381 8475 14381 5905 None Inside the major arc KSS Aged tissues [9; 322]
8476:14812 8476 14812 6335 None Inside the major arc KSS Aged tissues [18; 44; 163]
8482:13460 8482 13460 4977 None Inside the major arc KSS; PEO; PS ad/ar-PEO; ad/ar-PEO (POLGmut) Aged tissues; Unfertilized ooc(...) Parkinson Disease Inclusion body myopathy (ad); (...) Thyroid, Hepatic, Warthin's, G(...) Reye-like; Alzheimer Disease; (...) [2; 6; 11; 18; 21; 22; 24; 25;(...)
8518:15422 8518 15422 6903 None Inside the major arc PEO; KSS MELAS [40; 43]
8562:14429 8562 14429 5866 None Inside the major arc KSS [322]
8563:14596 8563 14596 6032 None Inside the major arc KSS; PEO [11]
8571:13237 8571 13237 4665 None Inside the major arc KSS; PEO [11-13]
8572:15826 8572 15826 7253 None Inside the major arc KSS [259]
8588:13730 8588 13730 5141 None Inside the major arc PEO; KSS [2]
8631:13580 8631 13580 4948 None Inside the major arc KSS [149]
8648:16085 8648 16085 7436 None Inside the major arc PS; KSS Mitochondrial myopathy Sublimons; Aged tissues; Unfer(...) Inclusion body myositis Hepatic tumors Cirrhotic liver; Diabetes mell(...) [18; 21-24; 29; 107; 144; 146;(...)
8823:15855 8823 15855 7031 None Inside the major arc KSS; PEO [11; 265]
8838:14906 8838 14906 6067 None Inside the major arc KSS Mitochondrial myopathy; Multis(...) [136; 137; 265]
9144:13816 9144 13816 4671 None Inside the major arc KSS [118; 265]
9180:14281 9180 14281 5100 None Inside the major arc KSS; PEO [11]
9258:13627 9258 13627 4368 None Inside the major arc KSS [3]
9484:13724 9484 13724 4239 None Inside the major arc KSS [153]
9497:13735 9497 13735 4237 None Inside the major arc KSS; PEO; PS Mitochondrial myopathy Aged tissues; Unfertilized ooc(...) Peripheral myopathy; Mitochond(...) [7; 18; 21; 26; 32; 280]
10051:15077 10051 15077 5025 None Inside the major arc KSS SNHL [61; 276]
10063:14598 10063 14598 4534 None Inside the major arc KSS Isolated mitochondrial myopath(...) [40; 41]
10154:15945 10154 15945 5790 None Inside the major arc PEO; KSS [40; 138; 161]
10169:14435 10169 14435 4265 None Inside the major arc KSS; PEO [11]
10207:13766 10207 13766 3558 None Inside the major arc KSS [36]
10370:15570 10370 15570 5199 None Inside the major arc KSS [40]
10559:14981 10559 14981 4421 None Inside the major arc PS; KSS [3]
10587:15913 10587 15913 5325 None Inside the major arc KSS [40]
10625:13059 10625 13059 2433 None Inside the major arc KSS [26]
10951:15372 10951 15372 4420 None Inside the major arc PEO; KSS [18; 26; 40; 44; 265]
10952:13990 10952 13990 3037 None Inside the major arc KSS [3]
10953:15837 10953 15837 4883 None Inside the major arc KSS Mitochondrial myopathy; Multis(...) [136; 137]
10969:14119 10969 14119 3149 None Inside the major arc KSS Cyclic vomiting syndrome [127]
11036:15028 11036 15028 3991 None Inside the major arc KSS [18]
11258:14369 11258 14369 3110 None Inside the major arc KSS [30]
11368:15786 11368 15786 4417 None Inside the major arc KSS; PEO [11]
11668:15916 11668 15916 4247 None Inside the major arc KSS [18]
11731:14450 11731 14450 2718 None Inside the major arc KSS [26]
12103:14414 12103 14414 2310 None Inside the major arc KSS; PEO [11; 265]
12104:14413 12104 14413 2308 None Inside the major arc KSS; PS; PEO Reye-like; MELAS; LS; Mitochon(...) [45-48; 107]
12112:14422 12112 14422 2309 None Inside the major arc KSS; PEO; PS Reye-like; MELAS; LS; Multisys(...) [26; 40; 44-48; 322]
12122:15844 12122 15844 3721 None Inside the major arc KSS [29]
12203:15355 12203 15355 3151 None Inside the major arc PEO; KSS Isolated mitochondrial myopath(...) [41; 138]