Table 1. Summary of the discovery source for genomic regions targeted on the WTCCC CNV genotyping array.
GSV CNVs were prioritised according to extent of polymorphism in European discovery samples. See Online Methods for full details of other sources.
| Source of Loci | Number of loci targeted |
Number of loci analysed |
Number of loci polymorphic with good calls |
|
|---|---|---|---|---|
|
| ||||
| CNVs | GSV Discovery Project | 10,835 | 10,217 | 3,096 |
| Affymetrix 500k | 18 | 14 | 12 | |
| Affymetrix 6.0 | 83 | 81 | 47 | |
| Illumina 1M | 82 | 81 | 18 | |
| WTCCC CNV Loci | 231 | 209 | 108 | |
| Novel Sequence | Novel Insert Regions | 292 | 292 | 151 |
|
| ||||
| Total | 11,541 | 10,894 | 3,432 | |