High-resolution Copy Number Variation (CNV) Discovery - Genotyping of selected CNVs

The Table of CNV genotypes contains absolute, integer-valued copy number estimates for 450 HapMap samples. The first worksheet is a map describing the location of all loci in the dataset. The CGH array used for CNV "genotyping" targeted some loci not discovered with the 42m probe array. Each set of integer-value copy number is indexed by the CNV name. Sample labels are in the column headers. "NA" is the missing data character for genotype calls that could not be assigned. The "Genotype Map" contains the following annotation information on each CNV:

  • CNV: CNV ID
  • chr, start, end: chromosome coordinates with respect to NCBI36/hg18. Note that CNVs of novel insert sequences are not mapped but have values of "NA" instead.
  • cn: the set of integer value absolute copy numbers observed at the locus
  • source: source of the CNV location. Either a publication, or "Genome Structural Variation Consortium"

Download the data here.


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