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Ensembl Variation - Human data availability

Available data

For human, we have the following data:

  • 677 million short sequence variants
  • 4.9 million structural variants
  • 2,300 phenotypes, with 11 million phenotype associations
  • 294,000 cited sequence variants in 121,000 publications
  • SIFT and PolyPhen predictions for 7.6 million and 7.7 million variants respectively

Restricted access data

Ensembl displays some human variant datasets with restricted access. We make these data visible as tracks on the genome browser, which can be turned on using the 'Configure this page' menu.

LOVD

We display only the high-quality curated data from the LOVD databases.

DECIPHER

We display both structural variants and short variants from DECIPHER. Data are provided on GRCh37 and remapped by Ensembl to GRCh38. These data are only available for display in the Browser, and not for bulk download.
Access to bulk data may be obtained directly from DECIPHER (https://decipher.sanger.ac.uk/datasharing/) and is subject to a Data Access Agreement, in which the user certifies that no attempt to identify individual patients will be undertaken. The same restrictions apply to the public data displayed in this browser no one is authorized to attempt to identify patients by any means.