Fig. 4

Validation of imputed intermediate-sized deletions by PCR and association with gene expression. Electrophoresis results of the PCR validation for three of the eleven imputed deletion candidates that were selected for validation. High concordance between the PCR validation and imputation results were observed (Additional file 3: Table S3). The eQTL association p value plots of the deletion candidates are shown below the electrophoresis results. The red arrows indicate the locations of the deletion candidates (red diamonds). The boxplots below show the change in gene expression levels brought about by the deletion candidates