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titleWelcome to HGVA project!

Human Genomic Variation Archive (HGVA) is an open access genomic variation resource that integrates all variants from key world-wide reference projects, but also added-value information such as basic variant annotation, population frequencies, protein effect predictions, variant-associated phenotype, etc.

HGVA is developed and maintained at University of Cambridge and it is available at http://bioinfodev.hpc.cam.ac.uk/web-apps/hgva

Main Features

  • Most important high-quality variant studies normalised and integrated in just one server database
  • Rich variant annotation performed, including HPO terms, consequence types, substitution effect prediction scores, Gene Ontology terms, etc.
  • Population frequencies calculated, including populations and super-populations
  • Interactive web-based data mining tool based on IVA
  • Clients in Python, R, Java, JavaScript for fast programmatic access

Contact

  • Javier Lopez (javier.lopez@genomicsengland.co.uk)

  • Ignacio Medina (im411@cam.ac.uk)


Latest news:

Blog Posts
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Current Studies

Refernce Studies GRCh37

  • 1000 Genomes Phase 3
  • Exome Aggregation Consortium (ExAC)
  • Exome Sequencing Project (ESP6500)
  • Genome of the Netherlands(GoNL)
  • UK10K project
  • Spanish Medical Genome Project

Refernce Studies GRCh38

  • 1000 Genomes Phase 3

Cancer GRCh37

  • QIMR Berghofer Melanoma
  • Chronic Myeloid Leukemia - Russian Academy of Medical Sciences

Statistics

More than 250M variants reported and about 120M of unique variants


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titleVariant Studies GCh37


StudyNum. variants
1kG Phase385170328
ExAC

63000000

ESP65001997952
GoNL20708427
UK10K ALSPAC46618311
UK10K TWINSUK46618311
MGP711005



Developers

Source Code

Web based on IVA project at  https://github.com/opencb/iva/tree/app/hgva

Server based on OpenCGA at  https://github.com/opencb/opencga

Contributing

HGVA is a collaborative project that aims to integrate as many reference human studies as possible, you can contact us for feature request. If you want to contribute to the code you are more than welcome to contribute to IVA and OpenCGA


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