3474 - 13627 Homo sapiens - Deletions Deletion length: 10152 bp Removes OL Removing part of minor and major arcs

Breakpoint flanking sequences more information in Documentation - Flanking regions

3474 5fl vs 3del Homology length: 1 bp Deleted region 13627 CTGACGCCATAAAACTCTTC ├ 5'Breakpoint ┤ ACCAAAGAGCCCCTAAAACC (...) CTCGAATAATTCTTCTCACC ├ 3'Breakpoint ┤ CTAACAGGTCAACCTCGCTT 5fl vs 3fl Homology length: 1 bp CTGACGCCATAAAACTCTTC ├ 5'Breakpoint ┤ ACCAAAGAGCCCCTAAAACC (...) CTCGAATAATTCTTCTCACC ├ 3'Breakpoint ┤ CTAACAGGTCAACCTCGCTT 5del vs 3del Homology length: 3 bp CTGACGCCATAAAACTCTTC ├ 5'Breakpoint ┤ ACCAAAGAGCCCCTAAAACC (...) CTCGAATAATTCTTCTCACC ├ 3'Breakpoint ┤ CTAACAGGTCAACCTCGCTT

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

 [327] Nicholls, Thomas J., et al., Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Human Molecular Genetics. 2014. 23: p. 6147-6162.