Ratio of WGTP array hybridisation intensity over relative expression level for four example genes.
A) L1CAM and B) UTX. The increase in expression as a result of the copy-number increase in females is clearly visible for UTX which is known to escape X-inactivation. C) and D) Examples of autosomal genes with common CNV polymorphisms. Red crosses denote individuals in which a deletion phenotype has been called by Redon et al., red triangles denote duplications. The plot highlights several potential false negatives with similar expression and hybridisation strength as the called deletions/duplications. Non-CNV related expression variation is substantial.
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