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540 - 14397
Homo sapiens - Deletions

Deletion length: 13856 bp

Removes OL
Removing part of minor and major arcs



Breakpoint flanking sequences
more information in Documentation - Flanking regions


540
5fl vs 3del
Homology length: 2 bp

Deleted region


14397
ACACCGCTGCTAACCCCATA 5'Breakpoint CCCCGAACCAACCAAACCCC (...) CTCCATCGCTAACCCCACTA 3'Breakpoint AAACACTCACCAAGACCTCA
5fl vs 3fl
Homology length: 1 bp

ACACCGCTGCTAACCCCATA 5'Breakpoint CCCCGAACCAACCAAACCCC (...) CTCCATCGCTAACCCCACTA 3'Breakpoint AAACACTCACCAAGACCTCA




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

 [327] Nicholls, Thomas J., et al., Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Human Molecular Genetics. 2014. 23: p. 6147-6162.