9357 - 13865 Homo sapiens - Deletions Deletion length: 4507 bp Does not remove any origin of replication Inside the major arc

Breakpoint flanking sequences more information in Documentation - Flanking regions

9357 5fl vs 3del Homology length: 10 bp Deleted region 13865 ACTAGGCCTACTAACCAACA ├ 5'Breakpoint ┤ CACTAACCATATACCAATGA (...) CCTCAACTACCTAACCAACA ├ 3'Breakpoint ┤ AACTTAAAATAAAATCCCCA 5fl vs 3fl Homology length: 1 bp ACTAGGCCTACTAACCAACA ├ 5'Breakpoint ┤ CACTAACCATATACCAATGA (...) CCTCAACTACCTAACCAACA ├ 3'Breakpoint ┤ AACTTAAAATAAAATCCCCA 5del vs 3del Homology length: 2 bp ACTAGGCCTACTAACCAACA ├ 5'Breakpoint ┤ CACTAACCATATACCAATGA (...) CCTCAACTACCTAACCAACA ├ 3'Breakpoint ┤ AACTTAAAATAAAATCCCCA

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

 [119] Johns, D.R., et al., Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proceedings of the National Academy of Sciences of the United States of America. 1989. 86(20): p. 8059-62.

 [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.