INTERMEDIATE-SIZED STRUCTURAL VARIATION(ISV)


Inversions, deletions and insertions are important mediators of disease and disease susceptibility1. We systematically compared the human genome reference sequence to a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants (ISV) > 8 kb in length. We identified 297 sites of structural variation, corresponding to 139 insertions, 102 deletions and 56 inversion breakpoints. Based on our combined literature, sequence and experimental analyses we provide validation for 112 of the structural variants including several of biomedical relevance. These data provide the first fine-scale structural variation map of the human genome and provide the requisite sequence precision for subsequent population and association studies with human disease.


Local UCSC Human Genome Browser Interface

           UCSC Genome Browser with additional Intermediate-Sized Structural variation data,  May 2004 assembly(build35)

           All size discordant sites that are detected(Only some of them made the final set of discordant sites)

Eichler Lab Homepage
More information and data from the Eichler Lab

For questions regarding to computational analysis content, please contact Eray Tuzun, from the laboratory of Evan Eichler, University of Washington.
For questions regarding scientific content, please contact Evan Eichler, from the laboratory of Evan Eichler, University of Washington.

References


  1. Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. Fine-scale structural variation of the human genome. Nature Genetics.  2005 May 15; [Epub ahead of print] (Pubmed)

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