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3173 - 14161
Homo sapiens - Deletions

Deletion length: 10987 bp

Removes OL
Removing part of minor and major arcs



Breakpoint flanking sequences
more information in Documentation - Flanking regions
3173 Deleted region 14161
TCACAAAGCGCCTTCCCCCG 5'Breakpoint TAAATGATATCATCTCAACT (...) TCACATAACCTATTCCCCCG 3'Breakpoint AGCAATCTCAATTACAATAT




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

 [129] Miyabayashi, S., et al., A new type of mitochondrial DNA deletion in patients with encephalomyopathy. Journal of Inherited Metabolic Disease. 1991. 14(5): p. 805-12.

 [265] Rocher, C., et al., Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements. Molecular Genetics and Metabolism. 2002. 76(2): p. 123-32.