DGV Gold Standard Variants (blue=Gain; red=Loss; brown=Gain+Loss)

This track contains a curated set of variants from a select number of studies in DGV. High resolution and high quality studies were evaluated for accuracy and sensitivity and included if they passed strict quality filters. Overlapping sample level variants were merged to create variant regions if they shared at least 70% of their length in a reciprocal manner. CNV regions were kept if there was sufficient support from multiple studies and samples indicating a high quality variant region. The initial criteria required that a variant is found in at least 2 different studies and found in at least two different samples. Information about the underlying samples, ethnicity and population distribution are recorded. This dataset will be dynamic and will continue to be updated to reflect new additions to the database.