Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements

@article{Smith2008SmallDV,
  title={Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements},
  author={Adam J de Smith and Robin G. Walters and Lachlan J M Coin and Israel Steinfeld and Zohar Yakhini and Robert Sladek and Philippe Froguel and Alexandra I. F. Blakemore},
  journal={PLoS ONE},
  year={2008},
  volume={3},
  pages={949 - 951}
}
Copy number variants (CNVs) contribute significantly to human genomic variation, with over 5000 loci reported, covering more than 18% of the euchromatic human genome. Little is known, however, about the origin and stability of variants of different size and complexity. We investigated the breakpoints of 20 small, common deletions, representing a subset of those originally identified by array CGH, using Agilent microarrays, in 50 healthy French Caucasian subjects. By sequencing PCR products… CONTINUE READING
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