463 - 12080 Homo sapiens - Deletions Deletion length: 11616 bp Removes OL Removing part of minor and major arcs

Breakpoint flanking sequences more information in Documentation - Flanking regions

463 5fl vs 3del Homology length: 1 bp Deleted region 12080 ACACATTATTTTCCCCTCCC ├ 5'Breakpoint ┤ ACTCCCATACTACTAATCTC (...) ACACCCTCATGTTCATACAC ├ 3'Breakpoint ┤ CTATCCCCCATTCTCCTCCT 5fl vs 3fl Homology length: 1 bp ACACATTATTTTCCCCTCCC ├ 5'Breakpoint ┤ ACTCCCATACTACTAATCTC (...) ACACCCTCATGTTCATACAC ├ 3'Breakpoint ┤ CTATCCCCCATTCTCCTCCT 5del vs 3del Homology length: 2 bp ACACATTATTTTCCCCTCCC ├ 5'Breakpoint ┤ ACTCCCATACTACTAATCTC (...) ACACCCTCATGTTCATACAC ├ 3'Breakpoint ┤ CTATCCCCCATTCTCCTCCT

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

 [6] Bodyak, N.D., et al., Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Human Molecular Genetics. 2001. 10(1): p. 17-24.