Resources for: Evolution and diversity of copy number variation in the great ape lineage

Peter H Sudmant, John Huddleston, Claudia R Catacchio, Maika Malig, LaDeana W Hillier, Carl Baker, Kiana Mohajeri, Ivanela Kondova, Ronald E Bontrop, Stephan Persengiev, Francesca Antonacci, Mario Ventura, Javier Prado-Martinez, Tomas Marques-Bonet, and Evan E Eichler


Links and Resources

  • Copy number heat-maps of 97 great apes (Build 36)
    • See example below for more information on copy number heatmaps
  • Supplementary Tables
    • S1 - Sample origins and sequencing information
    • S2 - Fixed lineage specific deletions identified against NCBI36
    • S3 - Fixed lineage specific duplications identified against NCBI36
    • S4 - Fixed lineage specific expansions identified against NCBI36
    • S5 - Fixed lineage specific deletions identified against non-human primate reference genomes
    • S6 - Gorilla CNV genotypes
    • S7 - Bonobo CNV genotypes
    • S8 - Chimpanzee CNV genotypes
    • S9 - Human CNV genotypes
    • S10 - Sumatran Orangutan CNV genotypes
    • S11 - Bornean Orangutan CNV genotypes

How to read copy number heatmaps

The above link redirects to the UCSC genome browser and a set of copy number heatmap tracks that look something like the example below, which shows the 17p11.2 locus for handful of great apes

These maps represent copy number estimates accross the human genome in windows of 500bp of unmasked sequence. The color of each window represents its copy number, as indicated by the scale on the left. In this particular example, notice the presense of a large 1.4Mbp deletion in one of the chimpanzees. Flanking this deletion are two high copy number loci, which have expanded in copy in the chimpanzee and bonobo samples. The above link will take you to a mirror of the UCSC genome browser where you can explore these copy number heatmaps across the genome in all 97 great apes assessed in our study.

For more information or help with any of these resources, please contact: psudmant [ a t ] u.washington.edu