Fig. 3

Fibre-FISH validation of six glycophorin duplications. Sequence read depth (SRD) analysis of selected duplications (DUP2, DUP3, DUP7, DUP8, DUP14 and DUP29) is shown on the left. The sequence read depth for each 5 kb window is shown as a point coloured according to the key on each plot either by sample or by cohort. The solid black line is the Loess best-fit line through the points. Above each plot the coloured bars show the glycophorin repeat regions, as in Fig. 1. The smaller coloured bars represent the location of each glycophorin gene (GYPE, GYPB, GYPA) labelled above each one. Representative fibre-FISH images from the index sample of each variant are shown on the right, with clones and fluorescent labels as shown in Fig. 1, with an additional green-labelled PCR product specific to the glycophorin E repeat for HG03686. All index samples are heterozygous, with a representative reference and variant allele from that sample shown. A schematic diagram next to the corresponding fibre-FISH image shows the structure of each allele inferred from the fibre-FISH and SRD analysis