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8482 - 1345
Homo sapiens - Deletions

Deletion length: 9431 bp

Removes OH
Inside the minor arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions
8482 Deleted region 1345
ACCACCTACCTCCCTCACCA 5'Breakpoint AAGCCCATAAAAATAAAAAA (...) TAGGTCAAGGTGTAGCCCAT 3'Breakpoint GAGGTGGCAAGAAATGGGCT




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

 [347] Varhaug, K.N., et al., Using urine to diagnose large‐scale mtDNA deletions in adult patients..Annals of clinical and translational neurology . 2020. 7(8): p.1318-1326.