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Visualising and analysing variants

The Ensembl variation schema is used to capture information from population-wide surveys of sequence variants.

This data is currently available for 22 metazoa, 8 fungi, 2 protist and 28 plant genomes. It can be downloaded or visualised in the genome browser (Figure 3).

Figure 3 Visualising variants in the context of a gene. Here, variants in the Gr25 (AGAP004727) gene of Anopheles gambiae are shown. Locations and functional consequences of the variants as well the transcript and the domain structure of the protein it encodes are displayed.

The Ensembl Variant Effect Predictor (VEP) allows to predict the effect of variants on genes and their products. It is available for all species in Ensembl Genomes.