Copy-Number Variations Observed in a Japanese Population by BAC Array CGH: Summary of Relatively Rare CNVs
Characterization of a loss-type CNV detected on a BAC-clone RP11-90M13. A genome map of the RP11-90M13-containing region was obtained from the UCSC Genome Browser website. The distance (bp) from the p-terminal of chromosome 8 is shown in the uppermost part. That region contains two genes, protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A) and early B-cell factor 2 (EBF2). The positions of PCR primers examined are shown by solid boxes. The individual has variant fragments with a deletion that contains a part of the 7th intron of the PPP2R2A gene and the promoter region of the EBF2 gene.
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