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8437 - 14068
Homo sapiens - Deletions

Deletion length: 5630 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


8437
5fl vs 3del
Homology length: 8 bp

Deleted region


14068
TTACACTATTCCTCATCACC 5'Breakpoint CAACTAAAAATATTAAACAC (...) TCTCCACCTCCATCATCACC 3'Breakpoint TCAACCCAAAAAGGCATAAT
5del vs 3del
Homology length: 1 bp

TTACACTATTCCTCATCACC 5'Breakpoint CAACTAAAAATATTAAACAC (...) TCTCCACCTCCATCATCACC 3'Breakpoint TCAACCCAAAAAGGCATAAT




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.

References

 [31] Krauch, G., et al., Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. American Journal of Medical Genetics. 2002. 110(1): p. 57-61.