Description

1447 copy number variable regions found in the HapMap Phase II data using SNP and BAC microarray analysis.

Display Conventions and Configuration

CNP and ISV regions are indicated by solid blocks that are color-coded to indicated the type of variation detected:

Green: gain (duplications)
Red: loss (deletions)
Blue: gain and loss (both deletion and duplication)
Black: inversion
Gray: gain or loss (unknown direction)

Methods

Experiments were performed with the International HapMap DNA and cell-line collection using two technologies: comparative analysis of hybridization intensities on Affymetric GeneChip Human Mapping 500K early access arrays (500K EA) and comparative genomic hybridization with a Whole Genome TilePath (WGTP) array.

Validation

The authors utilized numerous quality meaures, including repeated experiments on the WGTP for 82 individual and on the 500K EA for 15 individuals. The average false-positive rate per experiment was held beneath 5%. Aberrant chromosomes were removed from the analysis. Further details are available in the Nature paper cited below.

References

Redon, R., Ishikawa, S., Fitch, K., Feuk, L., Perry, G., Andrews, T., Fiegler, H., Lee, C., Jones, K., Scherer, S., Hurles, M. et al. Global variation in copy number in the human genome. Nature 444(7118), 444-454 (2006).