Abstract
We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
209,00 € per year
only 17,42 € per issue
Buy this article
- Purchase on SpringerLink
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Wright, A.F. Nature Encyclopedia of the Human Genome vol. 2, 959–968 (Nature Publishing Group, London, 2003).
Albertson, D.G. & Pinkel, D. Hum. Mol. Genet. 12, R145–R152 (2003).
Scherer, S.W. et al. Science 300, 767–772 (2003).
Bailey, J.A. et al. Science 297, 1003–1007 (2002).
Cheung, J. et al. Genome Biol. 4, R25 (2003).
Eichler, E.E., Clark, R.A. & She, X. Nat. Rev. Genet. 5, 345–354 (2004).
Shaw, C.J. & Lupski, J.R. Hum. Mol. Genet. 13, R57–R64 (2004).
Giglio, S. et al. Am. J. Hum. Genet. 68, 874–883 (2001).
Osborne, L.R. et al. Nat. Genet. 29, 321–325 (2001).
Hollox, E.J., Armour, J.A. & Barber, J.C. Am. J. Hum. Genet. 73, 591–600 (2003).
Groot, P.C., Mager, W.H. & Frants, R.R. Genomics 10, 779–785 (1991).
Ishkanian, A.S. et al. Nat. Genet. 36, 299–303 (2004).
Acknowledgements
We thank J. Kim for biostatistical assistance. This work was supported in part by a grant from the Friends of the Dana-Farber Cancer Institute (C.L.), the Brigham and Women's Hospital Pathology Department training grant (A.J.I.), Genome Canada (S.W.S.) and an National Institute of Health program project grant (P.K.D.). L.F. is supported by The Swedish Medical Research Council, and S.W.S. is an Investigator of the Canadian Institutes of Health Research and an International Scholar of the Howard Hughes Medical Institute.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing financial interests.
Supplementary information
Supplementary Fig. 1
Genome-wide array CGH plots for two representative self vs. self hybridization experiments. (PDF 162 kb)
Supplementary Table 1
Comprehensive description of large-scale copy number variations detected by array CGH. (PDF 141 kb)
Supplementary Table 2
Large-scale copy number variations near known polymorphic and disease loci. (PDF 86 kb)
Rights and permissions
About this article
Cite this article
Iafrate, A., Feuk, L., Rivera, M. et al. Detection of large-scale variation in the human genome. Nat Genet 36, 949–951 (2004). https://doi.org/10.1038/ng1416
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/ng1416
