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8312 - 13667
Homo sapiens - Deletions

Deletion length: 5354 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


8312
5fl vs 3del
Homology length: 3 bp

Deleted region


13667
CCCACTGTAAAGCTAACTTA 5'Breakpoint GCATTAACCTTTTAAGTTAA (...) CCCCACCCTTACTAACATTA 3'Breakpoint ACGAAAATAACCCCACCCTA
5fl vs 3fl
Homology length: 1 bp

CCCACTGTAAAGCTAACTTA 5'Breakpoint GCATTAACCTTTTAAGTTAA (...) CCCCACCCTTACTAACATTA 3'Breakpoint ACGAAAATAACCCCACCCTA




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.
Present in:
Controls
Profound presbycusis

References

 [148] Markaryan, A., E.G. Nelson, and R. Hinojosa, Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue. Mutation Research. 2008. 640(1-2): p. 38-45.