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8536 - 15439
Homo sapiens - Deletions

Deletion length: 6902 bp

Does not remove any origin of replication
Inside the major arc

Breakpoint flanking sequences
more information in Documentation - Flanking regions
8536 Deleted region 15439

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:
Anemia and Renal Tubulopathy


 [1] Almeida, E., et al., Síndrome de Pearson. Caso clínico. Acta Pediátrica Portuguesa. 2007. 38(2): p. 79-81.

 [2] Goios, A., et al., mtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk. Journal of Inherited Metabolic Disease. 2005. 28(5): p. 769-78.