8601 - 15731 Homo sapiens - Deletions Deletion length: 7129 bp Does not remove any origin of replication Inside the major arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	8601 Deleted region 15731 CCGCAGTACTGATCATTCTA ├ 5'Breakpoint ┤ TTTCCCCCTCTATTGATCCC (...) AATCACTTTATTGACTCCTA ├ 3'Breakpoint ┤ GCCGCAGACCTCCTCATTCT

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.

Present in:
Multiple deletion patient (POLG1mut)
Aged tissues
PEO, Parkinson

References

 [33] Reeve, A.K., et al., Nature of mitochondrial DNA deletions in substantia nigra neurons. American Journal of Human Genetics. 2008. 82(1): p. 228-35.

 [290] Nicholas, A., et al., On the timing and the extent of clonal expansion of mtDNA deletions: evidence from single-molecule PCR. Experimental Neurology. 2009. 218(2): p. 316-9.