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A tool for calling copy number variation (CNV) from targeted exome sequencing data. ExomeDepth tool is specifically designed to address technical variability between the samples.


Genetics; Genetic variation; Exome sequencing; Gene transcripts; Mapping; Sequencing


  • Operation: Sequence analysis; Variant calling; Genotyping; Copy number estimation
  • Software interface: R Library
  • Language: R
  • Operating system: Linux; Mac OS X; Microsoft Windows
  • License: GNU General Public License v3
  • Cost: Free
  • Version name: 1.1.10
  • Maturity: Mature
  • Credit: Wellcome Trust grant (088838/Z/09/Z), the Royal Society Research grant RG090638;, the EU FP7 grant (261441;) (PEVNET project) and the ERC Starting grant (260477 to S.N.); the NIHR Cambridge Biomedical Research Centre (to DK and RD); MRC research grant (G1001158) and the NIHR Moorfields Biomedical Research Council grant (to V.P.).
  • Contact: v.plagnol _at_
  • Collection:


Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S "A robust model for read count data in exome sequencing experiments and implications for copy number variant calling." Bioinformatics. 2012 Nov 1;28(21):2747-54.
PMID: 22942019
PMCID: PMC3476336

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