478 - 5160 Homo sapiens - Deletions Deletion length: 4681 bp Does not remove any origin of replication Inside the minor arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	478 5fl vs 3del Homology length: 8 bp Deleted region 5160 CTCCCACTCCCATACTACTA ├ 5'Breakpoint ┤ ATCTCATCAATACAACCCCC (...) GCACCACGACCCTACTACTA ├ 3'Breakpoint ┤ TCTCGCACCTGAAACAAGCT 5del vs 3del Homology length: 1 bp CTCCCACTCCCATACTACTA ├ 5'Breakpoint ┤ ATCTCATCAATACAACCCCC (...) GCACCACGACCCTACTACTA ├ 3'Breakpoint ┤ TCTCGCACCTGAAACAAGCT

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

 [58] Johns, D.R. and D.R. Cornblath, Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA deletions. Biochemical and Biophysical Research Communications. 1991. 174(1): p. 244-50.

 [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.