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9417 - 13684
Homo sapiens - Deletions

Deletion length: 4266 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


9417
5fl vs 3del
Homology length: 5 bp

Deleted region


13684
AAGCACATACCAAGGCCACC 5'Breakpoint ACACACCACCTGTCCAAAAA (...) TTAACGAAAATAACCCCACC 3'Breakpoint CTACTAAACCCCATTAAACG
5fl vs 3fl
Homology length: 1 bp

AAGCACATACCAAGGCCACC 5'Breakpoint ACACACCACCTGTCCAAAAA (...) TTAACGAAAATAACCCCACC 3'Breakpoint CTACTAAACCCCATTAAACG




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:
Multiple deletion patient (POLG1mut)
PEO, Parkinson

References

 [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.