Human Genome Structural Variation Project

Relevant External Links

Database of Genomic Variants

This link contains a list of human large-scale genomic variants with information about frequency and their relation to genes, segmental duplications and genome assembly gaps. Initially described in Iafrate et al. (2004), the database is updated with information from in-house experimental data as well as data from published research studies.

The Chromosome Anomaly Register

This link contains a comprehensive list of cytogenetically visible (large-scale) euchromatic variants that can now be regarded as part of the continuum of copy number variation in the human genome. A more detailed review is in press (Barber, J Med Genet, 2005). The Collection also includes unbalanced chromosome abnormalities without phenotypic effect.