1000 genome copy number variation

Question

[Leon]

I am testing the performance of some cnv detecting tools based on read depth using exome sequencing. For achieving this task, I need gold standard dataset as benchmark.Where can I find these data from 1000 genome project or other project? Thank you.

Answer 1

[Kevin Blighe]

Please take a look:

• Comprehensively benchmarking applications for detecting copy number variation
• Copy Number Variation detection from 1000 Genomes project exon capture sequencing data
• The phase 3 structural variant dataset
• A: List of CNV (copy number variation) regions in the human genome

Kevin

[Leon]

This is really helpful. Thank you!