3601 - 15273 Homo sapiens - Deletions Deletion length: 11671 bp Removes OL Removing part of minor and major arcs

Breakpoint flanking sequences more information in Documentation - Flanking regions

3601 5fl vs 3del Homology length: 5 bp Deleted region 15273 CAACCCCCTGGTCAACCTCA ├ 5'Breakpoint ┤ ACCTAGGCCTCCTATTTATT (...) AGTAGACAGTCCCACCCTCA ├ 3'Breakpoint ┤ CACGATTCTTTACCTTTCAC 5fl vs 3fl Homology length: 2 bp CAACCCCCTGGTCAACCTCA ├ 5'Breakpoint ┤ ACCTAGGCCTCCTATTTATT (...) AGTAGACAGTCCCACCCTCA ├ 3'Breakpoint ┤ CACGATTCTTTACCTTTCAC 5del vs 3del Homology length: 1 bp CAACCCCCTGGTCAACCTCA ├ 5'Breakpoint ┤ ACCTAGGCCTCCTATTTATT (...) AGTAGACAGTCCCACCCTCA ├ 3'Breakpoint ┤ CACGATTCTTTACCTTTCAC

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.