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539 - 4353
Homo sapiens - Deletions

Deletion length: 3813 bp

Does not remove any origin of replication
Inside the minor arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


539
5fl vs 3fl
Homology length: 1 bp

Deleted region


4353
CACACCGCTGCTAACCCCAT 5'Breakpoint ACCCCGAACCAACCAAACCC (...) GACTATGAGAATCGAACCCA 3'Breakpoint TCCCTGAGAATCCAAAATTC
5del vs 3del
Homology length: 1 bp

CACACCGCTGCTAACCCCAT 5'Breakpoint ACCCCGAACCAACCAAACCC (...) GACTATGAGAATCGAACCCA 3'Breakpoint TCCCTGAGAATCCAAAATTC




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.