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LogR and B allele frequency from GWA data for a subject with a 40 kb deletion at 18q22.1. The LogR plot of this patient shows a clear decrease in the SNP hybridization intensity within a ~40 kb region of Chr18q22.1. The B allele frequency plot shows a stretch of homozygosity in this same region. Taken together, these indicate the patient has a constitutional deletion of the highlighted region, which was subsequently confirmed by real-time qPCR.
