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10198 - 13761
Homo sapiens - Deletions

Deletion length: 3562 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


10198
5fl vs 3del
Homology length: 8 bp

Deleted region


13761
TTCGACCCTATATCCCCCGC 5'Breakpoint CCGCGTCCCTTTCTCCATAA (...) ACTAACAACATTTCCCCCGC 3'Breakpoint ATCCCCCTTCCAAACAACAA
5del vs 3del
Homology length: 4 bp

TTCGACCCTATATCCCCCGC 5'Breakpoint CCGCGTCCCTTTCTCCATAA (...) ACTAACAACATTTCCCCCGC 3'Breakpoint ATCCCCCTTCCAAACAACAA




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

 [107] Rotig, A., et al., Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Human Molecular Genetics. 1995. 4(8): p. 1327-30.

 [116] Rotig, A., et al., Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics. 1991. 10(2): p. 502-4.

 [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.