8421 - 12399 Homo sapiens - Deletions Deletion length: 3977 bp Does not remove any origin of replication Inside the major arc

Breakpoint flanking sequences more information in Documentation - Flanking regions

8421 5fl vs 3del Homology length: 7 bp Deleted region 12399 ATTACCCCCATACTCCTTAC ├ 5'Breakpoint ┤ ACTATTCCTCATCACCCAAC (...) CTAATTCCCCCCATCCTTAC ├ 3'Breakpoint ┤ CACCCTCGTTAACCCTAACA 5fl vs 3fl Homology length: 1 bp ATTACCCCCATACTCCTTAC ├ 5'Breakpoint ┤ ACTATTCCTCATCACCCAAC (...) CTAATTCCCCCCATCCTTAC ├ 3'Breakpoint ┤ CACCCTCGTTAACCCTAACA 5del vs 3del Homology length: 2 bp ATTACCCCCATACTCCTTAC ├ 5'Breakpoint ┤ ACTATTCCTCATCACCCAAC (...) CTAATTCCCCCCATCCTTAC ├ 3'Breakpoint ┤ CACCCTCGTTAACCCTAACA

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

 [2] Goios, A., et al., mtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk. Journal of Inherited Metabolic Disease. 2005. 28(5): p. 769-78.