The article "Mapping copy number variation by population-scale genome sequencing" by Mills et al. (2011) presents a comprehensive map of unbalanced structural variations (SVs) in the human genome, based on whole-genome DNA sequencing data from 185 individuals. The study integrates evidence from various SV discovery approaches and extensive experimental validations. The map includes 22,025 deletions and 6,000 additional SVs, such as insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, facilitating the analysis of their origin and functional impact. The authors examined gene disruptions in whole and partial gene deletions and observed a depletion of gene disruptions among high-frequency deletions. They also observed differences in the size spectra of SVs originating from distinct formation mechanisms and constructed a map of SV hotspots formed by common mechanisms. The analytical framework and SV map serve as a valuable resource for sequencing-based association studies.The article "Mapping copy number variation by population-scale genome sequencing" by Mills et al. (2011) presents a comprehensive map of unbalanced structural variations (SVs) in the human genome, based on whole-genome DNA sequencing data from 185 individuals. The study integrates evidence from various SV discovery approaches and extensive experimental validations. The map includes 22,025 deletions and 6,000 additional SVs, such as insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, facilitating the analysis of their origin and functional impact. The authors examined gene disruptions in whole and partial gene deletions and observed a depletion of gene disruptions among high-frequency deletions. They also observed differences in the size spectra of SVs originating from distinct formation mechanisms and constructed a map of SV hotspots formed by common mechanisms. The analytical framework and SV map serve as a valuable resource for sequencing-based association studies.