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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
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]
5834:10829 5834 10829 4994 None Inside the major arc PEO [322]
6079:11305 6079 11305 5225 None Inside the major arc PEO Mitochondrial myopathy [322]
6203:14258 6203 14258 8054 None Inside the major arc PEO [18]
6215:10976 6215 10976 4760 None Inside the major arc PEO [10]
6310:15611 6310 15611 9300 None Inside the major arc PEO [44]
6320:11272 6320 11272 4951 None Inside the major arc PEO [44]
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]
6380:14096 6380 14096 7715 None Inside the major arc PEO [40]
7115:10546 7115 10546 3430 None Inside the major arc PEO [301]
7407:13620 7407 13620 6212 None Inside the major arc PEO [26]
7448:13475 7448 13475 6026 None Inside the major arc PEO [44]
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]
7547:13475 7547 13475 5927 None Inside the major arc PEO [296]
7669:15437 7669 15437 7767 None Inside the major arc KSS; PEO Evolution from PS; Sideroblast(...) [11; 155; 265]
7823:15389 7823 15389 7565 None Inside the major arc PEO [40; 265]
7846:9749 7846 9749 1902 None Inside the major arc PEO; KSS Myoblasts [40; 160; 161]
7864:15408 7864 15408 7543 None Inside the major arc PEO Mitochondrial myopathy [322]
7868:15545 7868 15545 7676 None Inside the major arc PEO Multiple sclerosis [320]
7889:15435 7889 15435 7545 None Inside the major arc PEO [140]
7982:15504 7982 15504 7521 None Inside the major arc KSS; PEO Mitochondrial myopathy MELAS; Ptosis; Proximal limb w(...) [15; 40; 42; 43; 265]
7989:15435 7989 15435 7445 None Inside the major arc PEO [140]
8211:15340 8211 15340 7128 None Inside the major arc PEO [138]
8380:13338 8380 13338 4957 None Inside the major arc PEO [26]
8412:15664 8412 15664 7251 None Inside the major arc PEO [142]
8424:11503 8424 11503 3078 None Inside the major arc PEO [304]
8426:14058 8426 14058 5631 None Inside the major arc PEO Mitochondrial myopathy [322]
8467:13444 8467 13444 4976 None Inside the major arc PEO [44]
8468:13446 8468 13446 4977 None Inside the major arc KSS; PEO Inclusion body myositis [11; 24; 44]
8468:16073 8468 16073 7604 None Inside the major arc PEO [322]
8479:13594 8479 13594 5114 None Inside the major arc PEO [44]
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]
8562:13759 8562 13759 5196 None Inside the major arc PEO HeLa cells [150; 151]
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]
8588:13730 8588 13730 5141 None Inside the major arc PEO; KSS [2]
8624:13886 8624 13886 5261 None Inside the major arc PEO [11; 265]
8707:13723 8707 13723 5015 None Inside the major arc PEO [115]
8813:13304 8813 13304 4490 None Inside the major arc PEO [18]
8817:15610 8817 15610 6792 None Inside the major arc PEO [44]
8823:15855 8823 15855 7031 None Inside the major arc KSS; PEO [11; 265]
9021:13833 9021 13833 4811 None Inside the major arc PEO [18]
9180:14281 9180 14281 5100 None Inside the major arc KSS; PEO [11]
9320:14273 9320 14273 4952 None Inside the major arc PEO [130]
9357:13865 9357 13865 4507 None Inside the major arc PEO [119; 265]
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]
9514:13052 9514 13052 3537 None Inside the major arc PEO [44]
9519:15639 9519 15639 6119 None Inside the major arc PEO Mitochondrial myopathy [322]
9619:15835 9619 15835 6215 None Inside the major arc PEO [322]
9762:13455 9762 13455 3692 None Inside the major arc PEO [305]
9816:15744 9816 15744 5927 None Inside the major arc PEO [26]
10004:15360 10004 15360 5355 None Inside the major arc PEO; PS [297]
10080:14959 10080 14959 4878 None Inside the major arc PEO Diabetes and deafness [153]
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]
10935:13773 10935 13773 2837 None Inside the major arc PEO Skeletal muscle symptoms [18]
10951:15372 10951 15372 4420 None Inside the major arc PEO; KSS [18; 26; 40; 44; 265]
10952:15373 10952 15373 4420 None Inside the major arc PEO [40]
11035:15183 11035 15183 4147 None Inside the major arc PEO [153]
11368:15786 11368 15786 4417 None Inside the major arc KSS; PEO [11]
11680:14258 11680 14258 2577 None Inside the major arc PEO [18]
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]
12203:15355 12203 15355 3151 None Inside the major arc PEO; KSS Isolated mitochondrial myopath(...) [41; 138]
12439:15390 12439 15390 2950 None Inside the major arc PEO Chronic fatigue syndrome; Axia(...) [153]