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[Preprint]. 2023 Dec 30:2023.11.01.565049. [Version 2] doi: 10.1101/2023.11.01.565049

Figure 2. Genome variation between RPE-1 haplotypes.

Figure 2.

(a) RPE-1 haplotypes harbor repeat structure variations at centromeres, as shown by the pairwise similarity heatmaps of the HORs (Methods). (b) Base-level resolution of t(X;10) (q28;q21.2), a RPE-1-specific structural variant (Methods) involving a 73.18 Mb segment, duplicated from the q-arm of Hap 2’s chromosome 10 fused to the microdeleted telomeric region of Hap 1’s chromosome X. (c) Synteny between RPE-1 haplotypes highlight intra-haplotype structural variations, peaking at centromeric and pericentromeric regions. (d) Pairwise similarity heatmaps of chromosomes with major intra-haplotype differences in term of centromere sequence, size, structure and position. HORs structural variants (SVs) are shown for each chromosome. (e) Ratio (top) of centromere length (bottom) between the two RPE-1 haplotypes. Chromosomes with a length ratio greater than 1.5 or less than 0.7 are highlighted.