Welcome to HGVA!

Human Genomic Variation Archive (HGVA) ...

Main Features

  • Most important high-quality variant studies normalised and integrated in just one server database
  • Rich variant annotation performed
  • Population frequencies calculated
  • Interactive web-based data mining tool based on IVA

Contact

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

  • Ignacio Medina (im411@cam.ac.uk)


Welcome to the Human Genomic Variation Archive project. Here you will find plenty of information regarding what HGVA project is and how to use it. You can visit it at

http://bioinfodev.hpc.cam.ac.uk/web-apps/hgva


Latest news:


Current Studies

Assembly GRCh37

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

Assembly GRCh38

  • 1000 Genomes Phase 3

Cancer GRCh37

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

Statistics

More than 300M unique variants

1B variants



StudyNum. variants
1000G80000000
ExAC

63000000

ESP650010000000



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


Recent space activity