Variation features

Variation features, which are variants mapped to the genome, are introduced in this presentation.

Exercise 2

1. Retrieve all genetic variants in human located on chromosome 13 from 48985833 to 48987289. Get:
   • Variant name
   • Alleles (e.g. ‘A/C’)
   • Reference allele (‘A’)
   • Location (Chromosome:Start–End)
     
2. Retrieve the genomic location and alleles for the following variants:
   • rs7107418
   • rs671
   • rs17646946
   • rs4988235

Anja explains the answers to these questions in this 3-minute video. You can also download her sample script and expected output.