Fig. 2

Definition of CNV loci, their composition and percentage span by CNVRs. A. CNV loci are defined by outermost breakpoints for a set of CNVRs of the same type. Depending on the CNVRs included in each technology, the resulting CNV loci boundaries will vary; left to right: all technologies CNVRs included, long-read CNVR filtered by intrinsic score >5 (boundary has changed because one long-read CNVR is no longer included due to its low score, indicated by hollow rectangle), long-read CNVR filtered by intrinsic score >1 and only HQ CNVRs included for all three technologies (boundary has changed again since now also an LQ array CNVR is not included, hollow top rectangle); B. Histogram of CNVR counts (using CNV loci for long-read score > 1 set as representative) binned by size (x-axis) and a list of supporting technologies for array, long-read and short-read, respectively; C. The between-technology support is defined as the number of technologies having a CNVR in the given CNVL (one, two or three); D. To compare sizes of constituting CNVRs for each CNV locus, the percentage span of CNV locus is calculated for each technology CNVR, e.g., length CNVR/length CNV locus × 100; E. Same CNVRs as in panel B, but visualized as proportions rather than counts. Color legend shared with panel B