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5787 - 13920
Homo sapiens - Deletions

Deletion length: 8132 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


5787
5fl vs 3fl
Homology length: 1 bp

Deleted region


13920
GGCAGGTTTGAAGCTGCTTC 5'Breakpoint TTCGAATTTGCAATTCAATA (...) TTCTCCAACATACTCGGATT 3'Breakpoint CTACCCTAGCATCACACACC
5del vs 3del
Homology length: 2 bp

GGCAGGTTTGAAGCTGCTTC 5'Breakpoint TTCGAATTTGCAATTCAATA (...) TTCTCCAACATACTCGGATT 3'Breakpoint CTACCCTAGCATCACACACC




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; PEO
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References

 [11] Degoul, F., et al., Different Mechanisms Inferred from Sequences of Human Mitochondrial-DNA Deletions in Ocular Myopathies. Nucleic Acids Research. 1991. 19(3): p. 493-496.

 [279] Cormier, V., et al., Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. American Journal of Human Genetics. 1991. 48(4): p. 643-8.