7635 - 15440 Homo sapiens - Deletions Deletion length: 7804 bp Does not remove any origin of replication Inside the major arc	Breakpoint flanking sequences more information in Documentation - Flanking regions
	7635 Deleted region 15440 GACGCTACTTCCCCTATCAT ├ 5'Breakpoint ┤ AGAAGAGCTTATCACCTTTC (...) CAATCAAAGACGCCCTCGGC ├ 3'Breakpoint ┤ TTACTTCTCTTCCTTCTCTC

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
Lowe Syndrome

References

 [141] Moraes, C.T., et al., Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?. American Journal of Medical Genetics. 1991. 41(3): p. 301-5.