Figure 7
From: Assessing structural variation in a personal genome—towards a human reference diploid genome
Complex rearrangement. A representation of a large-scale deletion and inverted insertion rearrangement on chromosome 11 p15.5 is depicted. Through de novo assembly, the rearrangement breakpoint junctions (Jct 1, 2, and 3) were identified, and the resultant structure in the genome of HS1011 was found to be as depicted. Below are shown the junction sequences of the three breakpoints.