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Fig. 2 | BMC Genomics

Fig. 2

From: Structural variation of the malaria-associated human glycophorin A-B-E region

Fig. 2

Fibre-FISH validation of four glycophorin deletions. Sequence read depth (SRD) analysis of selected deletions (DEL1, DEL2, DEL6, DEL7) 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. Individuals homozygous or DEL1 or DEL2, are shown in the plot with a very low sequence read depth (~ 0) across the deleted region. 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. All index samples apart from NA18719 are heterozygous, with a representative reference (top) and variant (bottom) 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

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