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12112 - 14422
Homo sapiens - Deletions

Deletion length: 2309 bp

Does not remove any origin of replication
Inside the major arc

Breakpoint flanking sequences
more information in Documentation - Flanking regions
12112 Deleted region 14422

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:
Reye-like; MELAS; LS; Multisystemic mitochondrial disorders


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 [322] Sadikovic, B., et al., Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. Plos one. 2010. 5(12): p. e15687.