Figure 1
From: VariantClassifier: A hierarchical variant classifier for annotated genomes
Relationship between query variants, reference annotation and sequence in the region of interest, and the complete reference genome/chromosome. For Ensembl genomes, the coordinate system is defined in 1-"residue"-based coordinates, from 1 to the length of the chromosome, L. The region of interest is a subset of the genome. The VariantClassifier uses a 0-"space"-based coordinate system to facilitate the description of indels. This local coordinate system ranges from 0 to the length of the reference sequence subregion, s. The reference annotation and query variants need to be specified in the region of interest's local coordinate system.