9084 - 15438 Homo sapiens - Deletions Deletion length: 6353 bp Does not remove any origin of replication Inside the major arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	9084 Deleted region 15438 CAATATCAACCATTAACCTT ├ 5'Breakpoint ┤ CCCTCTACACTTATCATCTT (...) CACAATCAAAGACGCCCTCG ├ 3'Breakpoint ┤ GCTTACTTCTCTTCCTTCTC

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:
ad/ar-PEO
Ptosis; Proximal limb weakness; Chronic fatigue syndrome; Ataxia; Seizures; other neurological symptoms

References

 [15] Regan, C., Sequence characterization of breakpoint regions of human mitochondrial DNA deletions and possible mechanisms of formation. PhD Thesis. 1999.