12439 - 15390 Homo sapiens - Deletions Deletion length: 2950 bp Does not remove any origin of replication Inside the major arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	12439 Deleted region 15390 AAAAAACTCATACCCCCATT ├ 5'Breakpoint ┤ ATGTAAAATCCATTGTCGCA (...) CCTAGGAATCACCTCCCATT ├ 3'Breakpoint ┤ CCGATAAAATCACCTTCCAC

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:
PEO
Chronic fatigue syndrome; Axial hypotonia

References

 [153] Chabi, B., et al., Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis. Clinical Chemistry. 2003. 49(8): p. 1309-17.