Table 2

 Identification of CNA origin by microarray differential expression analysis

CellsDeletion region*BreakpointPredicted breakpointPre-point prevalence**Post-point prevalence††Odds ratio‡‡
Locus†Mb‡Locus§Mb¶
*Deletion regions are derived from karyotypes data that provided by Coriell Cell Repositories/NIGMS; †the expected breakpoint locus determined based on previous cytogenetic evaluation/total number of assessed loci for the specific chromosome; ‡the expected base pair location of the breakpoint/total base pairs on the specific chromosome; §point estimate (and bootstrap 95% confidence interval) of the ordered locus at which chromosomal deletion begins; ¶point estimate (and bootstrap 95% confidence interval) of the chromosomal location (in megabases from pter) at which chromosomal deletion begins; **prevalence of microarray declared decreases in gene expression for genes with transcription start sites p terminal to the estimated breakpoint; ††prevalence of microarray declared decreases in gene expression for genes with transcription start sites q terminal to the estimated breakpoint; ‡‡odds of declared underexpression in the post-breakpoint region relative to that in the pre-breakpoint region.
GM032407q35→qter1342/1493143.0/158.21354 (1327 to 1406)147.8 (142.5 to 150.2)8.6%35.3%5.76
GM008709pter→p13187/118533.2/136.3112 (40 to 243)19.4 (5.5 to 35.1)26.8%9.7%3.41
GM0304710pter→p12232/122129.1/134.8224 (197 to 252)28.1 (26.6 to 32.6)29.5%7.2%5.37