The HuVariome project aims to determine rare and common genetic variation in a Northern European population (Benelux) based on whole genome sequencing results.

Variations, their population frequencies and the functional impact are stored in the HuVariome Database.

Users who provide samples for inclusion within the database are able to access the full content of the database*, whilst guests can access the public set of genomes published by Complete Genomics.

This application is a collaboration between Erasmus MC, Complete Genomics, VX company and Oracle.

*currently 165 individual genomes

Upload your variants...

...and get a report of known variants and functional consequences.
To access HuVariome without an account please use the form below.

  • Regions consist of: chromosome start [end] [other stuff] and must be tab- or space delimited.
  • Chromosome may be prepended with chr, and is obligatory as is start.
  • A single position can either be entered without end, or with end equal to start. If there is other stuff in the line it is ignored. Empty lines are allowed also.
  • All headers must start with a hash (#) or it will be mistaken for data.

Select assembly:

Upload a file

Or paste the regions here

E-mail address to receive a notice and link to results (optional)

To access the full content please log in