Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations

Jian Li, Tielin Yang, Liang Wang, Han Yan, Yinping Zhang, Yan Guo, Feng Pan, Zhixin Zhang, Yumei Peng, Qi Zhou, Lina He, Xuezhen Zhu, Hongyi Deng, Shawn Levy, Christopher J. Papasian, Betty M. Drees, James J. Hamilton, Robert R. Recker, Jing Cheng, Hong Wen Deng

Research output: Contribution to journalArticle

40 Scopus citations


Although copy number variation (CNV) has recently received much attention as a form of structure variation within the human genome, knowledge is still inadequate on fundamental CNV characteristics such as occurrence rate, genomic distribution and ethnic differentiation. In the present study, we used the Affymetrix GeneChip® Mapping 500K Array to discover and characterize CNVs in the human genome and to study ethnic differences of CNVs between Caucasians and Asians. Three thousand and nineteen CNVs, including 2381 CNVs in autosomes and 638 CNVs in X chromosome, from 985 Caucasian and 692 Asian individuals were identified, with a mean length of 296 kb. Among these CNVs, 190 had frequencies greater than 1% in at least one ethnic group, and 109 showed significant ethnic differences in frequencies (p

Original languageEnglish
Article numbere0007958
JournalPLoS One
Issue number11
Publication statusPublished - 2009


All Science Journal Classification (ASJC) codes

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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