498 - 306 Homo sapiens - Duplications Duplication length: 193 bp Duplicated region: 306:498 Partially duplicated molecule length: 16762 bp Duplicates OH Duplicating part of minor and major arcs	Breakpoint flanking sequences more information in Documentation - Flanking regions
	498 5fl vs 3del Homology length: 3 bp Non-duplicated region 306 ATCTCATCAATACAACCCCC ├ 5'Breakpoint ┤ GCCCATCCTACCCAGCACAC (...) AAAAAATTTCCACCAAACCC ├ 3'Breakpoint ┤ CCCCTCCCCCGCTTCTGGCC 5fl vs 3fl Homology length: 4 bp ATCTCATCAATACAACCCCC ├ 5'Breakpoint ┤ GCCCATCCTACCCAGCACAC (...) AAAAAATTTCCACCAAACCC ├ 3'Breakpoint ┤ CCCCTCCCCCGCTTCTGGCC

Two-dimensional scatterplot showing the location of the selected duplication (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 duplicated region (black bar).
Length distribution of the duplicated region in the selected duplication (red bar) versus the full dataset (grey bars) .The cases were grouped 100-nt windows.

Present in:
PEO
Control

References

 [8] Tengan, C. H., et al., Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions. Biochimica et Biophysica Acta. 2002. 1588(1): p. 65-70.