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6843 - 14388
Homo sapiens - Deletions

Deletion length: 7544 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


6843
5fl vs 3del
Homology length: 8 bp

Deleted region


14388
CGCTACCATAATCATCGCTA 5'Breakpoint TCCCCACCGGCGTCAAAGTA (...) CAATCCTACCTCCATCGCTA 3'Breakpoint ACCCCACTAAAACACTCACC
5fl vs 3fl
Homology length: 1 bp

CGCTACCATAATCATCGCTA 5'Breakpoint TCCCCACCGGCGTCAAAGTA (...) CAATCCTACCTCCATCGCTA 3'Breakpoint ACCCCACTAAAACACTCACC




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

 [6] Bodyak, N.D., et al., Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Human Molecular Genetics. 2001. 10(1): p. 17-24.

 [28] Khrapko, K., et al., Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions. Nucleic Acids Research. 1999. 27(11): p. 2434-41.

 [33] Reeve, A.K., et al., Nature of mitochondrial DNA deletions in substantia nigra neurons. American Journal of Human Genetics. 2008. 82(1): p. 228-35.