Large-Scale Copy Number Polymorphism in the Human Genome

@article{Sebat2004LargeScaleCN,
  title={Large-Scale Copy Number Polymorphism in the Human Genome},
  author={Jonathan Sebat and B. Lakshmi and Jennifer Troge and Joan Alexander and Janet M. Young and P{\"a}r Lundin and Susanne M{\aa}n{\'e}r and Hillary F. Massa and Megan Walker and Maoyen Chi and Nicholas E. Navin and Robert Lucito and John Healy and James Hicks and Kenny Q. Ye and Andrew Reiner and T. Conrad Gilliam and Barbara J. Trask and Nick J. Patterson and Anders Zetterberg and Michael Wigler},
  journal={Science},
  year={2004},
  volume={305},
  pages={525 - 528}
}
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length… 
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