[Genome] UCSC structural variation submission

[george.zogopoulos at utoronto.ca]

Hi,

We have recently published a paper describing copy number variation in  
a large (>1000 individuals) North American population. The size of our  
study allowed us to estimate the frequencies of these genomic changes  
in our control population. In addition, we have identified 183  
previously unknown copy number changes. The citation is listed below.

Would it be possible to add our findings to the UCSC structural  
variation track? It is the first population based study of more than  
1000 individuals. Please let me know if you need additional information.

Thank you,

George Zogopoulos MD PhD
Mount sinai Hospital
Toronto, Canada




1: Hum Genet. 2007 Jul 19; [Epub ahead of print] Links
Germ-line DNA copy number variation frequencies in a large North  
American population.Zogopoulos G, Ha KC, Naqib F, Moore S, Kim H,  
Montpetit A, Robidoux F, Laflamme P, Cotterchio M, Greenwood C,  
Scherer SW, Zanke B, Hudson TJ, Bader GD, Gallinger S.
Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin  
Centre for Cancer Genetics, Samuel Lunenfeld Research Institute,  
Toronto, Canada.

Genomic copy number variation (CNV) is a recently identified form of  
global genetic variation in the human genome. The Affymetrix GeneChip  
100 and 500 K SNP genotyping platforms were used to perform a  
large-scale population-based study of CNV frequency. We constructed a  
genomic map of 578 CNV regions, covering approximately 220 Mb (7.3%)  
of the human genome, identifying 183 previously unknown intervals.  
Copy number changes were observed to occur infrequently (<1%) in the  
majority (>93%) of these genomic regions, but encompass hundreds of  
genes and disease loci. This North American population-based map will  
be a useful resource for future genetic studies.