Chunk #44 — MATERIALS AND METHODS — CNV validation and replication — Validation of CNVR 11q11 by qPCR

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Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.

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of a heterozygous or homozygous deletion at CNVR 11q11. Regarding called CNS the data were not readily comparable. Hence, all called 105 homozygous deletions at CNVR 11q11 were called by both qPCR and Affymetrix CNV markers whereas the overlap for called heterozygous deletions (n = 510 called by qPCR) was exceedingly lower (only 3% of all 510 heterozygous deletions were calculated as CNS = 1 by the HMM applied to the Affymetrix CNV markers). Taken together, the latter observation corresponds to the results of others (44) and underlines the benefits of using intensities as compared to the use of called CNVs.