Fig. 6

Copy number of target regions in control and mutant samples as estimated by ddPCR for putative (a) duplications, (b) hemizygous deletions and (c) homozygous deletions. Estimated copy number was calculated by dividing the concentration (in number of DNA templates per μl) obtained for the primer pair considered by the concentration obtained for the reference BY primer pair in the same sample, times two (considering diploidy). X-axis labels include the name of the mutant sample in which the event was called, the chromosome on which the event is located, and the primer pair used to assess the number of copies (see Additional file 7 for primer information). The putative duplication in FNMN0044 and the putative homozygous deletion on chromosome 6 of FNMN0064 were omitted from these graphs because of their very high copy number (> 20)