9603 - 14141 Homo sapiens - Deletions Deletion length: 4537 bp Does not remove any origin of replication Inside the major arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	9603 5fl vs 3del Homology length: 8 bp Deleted region 14141 CCTAGAAGTCCCACTCCTAA ├ 5'Breakpoint ┤ ACACATCCGTATTACTCGCA (...) CATCCTAACCCTACTCCTAA ├ 3'Breakpoint ┤ TCACATAACCTATTCCCCCG 5del vs 3del Homology length: 1 bp CCTAGAAGTCCCACTCCTAA ├ 5'Breakpoint ┤ ACACATCCGTATTACTCGCA (...) CATCCTAACCCTACTCCTAA ├ 3'Breakpoint ┤ TCACATAACCTATTCCCCCG

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:
Mitochondrial myopathy
Aged tissues
Peripheral myopathy

References

 [6] Bodyak, N.D., et al., Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Human Molecular Genetics. 2001. 10(1): p. 17-24.

 [7] Yuzaki, M., et al., Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy. Biochemical and Biophysical Research Communications. 1989. 164(3): p. 1352-7.