7489 - 1442 Homo sapiens - Deletions Deletion length: 10521 bp Removes OH Inside the minor arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	7489 Deleted region 1442 CCAAAGCTGGTTTCAAGCCA ├ 5'Breakpoint ┤ ACCCCATGGCCTCCATGACT (...) GATTTAGCAGTAAACTAAGA ├ 3'Breakpoint ┤ GTAGAGTGCTTAGTTGAACA

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:
Chronic PEO
Skeletal muscle biopsies

References

 [345] Loos, M.A., et al., Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients..Molecular Genetics and Metabolism Reports. 2021. 27: p.100733.