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8571 - 13237
Homo sapiens - Deletions

Deletion length: 4665 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions
8571 Deleted region 13237
TCATTGCCCCCACAATCCTA 5'Breakpoint GGCCTACCCGCCGCAGTACT (...) CACAAAATGACATCAAAAAA 3'Breakpoint ATCGTAGCCTTCTCCACTTC




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

 [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.

 [12] Lestienne, P., Mitochondrial and nuclear DNA complementation in the respiratory chain function and defects. Biochimie. 1989. 71(11-12): p. 1115-23.

 [13] Nelson, I., et al., [Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome]. Comptes Rendus de l'Académie des Sciences - Series III. 1989. 309(10): p. 403-7.