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4398 - 14822 Homo sapiens - Deletions Deletion length: 10423 bp Removes OL Removing part of minor and major arcs |
Breakpoint flanking sequences more information in Documentation - Flanking regions |
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Two-dimensional scatterplot showing the location of the selected deletion (red diamond) versus the full dataset (grey dots). Each point represents an mtDNA rearrangement with the 5’ breakpoint on the x-axis and the 3’ breakpoint on the y-axis. |
Circular mtDNA plot specifying the location of the deleted region (black bar). |
Length distribution of the deleted region in the selected deletion (red bar) versus the full dataset (grey bars) .The cases were grouped 100-nt windows. |
References
[132] Ballinger, S.W., et al., Mitochondrial diabetes revisited. Nature Genetics. 1994. 7(4): p. 458-9.
[133] Ballinger, S.W., et al., Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature Genetics. 1992. 1(1): p. 11-5.
[134] Gerbitz, K.D., et al., Mitochondrial diabetes mellitus: a review. Biochimica Et Biophysica Acta. 1995. 1271(1): p. 253-60.