7846 - 9749 Homo sapiens - Deletions Deletion length: 1902 bp Does not remove any origin of replication Inside the major arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	7846 Deleted region 9749 TACGCATCCTTTACATAACA ├ 5'Breakpoint ┤ GACGAGGTCAACGATCCCTC (...) CTCCTACAAGCCTCAGAGTA ├ 3'Breakpoint ┤ CTTCGAGTCTCCCTTCACCA

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:
PEO; KSS
Myoblasts

References

 [40] Mita, S., et al., Recombination Via Flanking Direct Repeats Is a Major Cause of Large-Scale Deletions of Human Mitochondrial-DNA. Nucleic Acids Research. 1990. 18(3): p. 561-567.

 [160] Mahato, B., S. Jash, and S. Adhya, RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation. Mitochondrion. 2011. 11(4): p. 564-74.

 [161] Sobreira, C., et al., Long-term analysis of differentiation in human myoblasts repopulated with mitochondria harboring mtDNA mutations. Biochemical and Biophysical Research Communications. 1999. 266(1): p. 179-86.