8470 - 13447 Homo sapiens - Deletions Deletion length: 4976 bp Does not remove any origin of replication Inside the major arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	8470 Deleted region 13447 TAAACACAAACTACCACCTA ├ 5'Breakpoint ┤ CCTCCCTCACCAAAGCCCAT (...) AAACCATACCTCTCACTTCA ├ 3'Breakpoint ┤ ACCTCCCTCACCATTGGCAG

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:
KSS
Solid tumors

References

 [157] Penta, J.S., et al., Mitochondrial DNA in human malignancy. Mutation Research. 2001. 488(2): p. 119-33.

 [340] Saldaña-Martínez, A., et al., Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants..Gene. 2019. 688: p.171-181.