A segment of the human reference genome, viewed using Ensembl with the<unk>  track enabled. Red bars represent individual mutations for anonymous patients with deletions across this region, while green bars represent patients with duplications across this region. The region shown encompasses the segment of chromosome missing in patients with 17q21.3 recurrent microdeletion syndrome.<unk>  is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities (microdeletions and duplications) and pathogenic sequence variants (single nucleotide variants - SNVs, Insertions, Deletions, InDels), from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups. An acronym of DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources,<unk>  was initiated in 2004 at the Sanger Institute in the United Kingdom, funded by the Wellcome Trust. However it is supported by an international research consortium, with patient data contributed by more than 240 clinical genetics centres from 33 countries. Each centre is represented by an experienced clinical geneticist and a senior molecular cytogeneticist.
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