Fig. 1

Genetic variants and replication phases in different genomic zones. a Length distributions of CNVs. Upper panel: distribution of germline CNVs in total and in the Genic, Proximal, and Distal genomic zones. Germline CNVs are separated into short (S), medium (M), long (L), and extra-long (E) CNVs based on the three cuts indicated by the red arrows (see “Size-classifications of CNVs” in “Methods” section). Lower panel: distribution of total somatic CNVs in tumors from COSMIC database. b Percentile distributions of eight kinds of genetic variants in the Genic (blue), Proximal (green), and Distal (red) zones. The last “Zone” column expresses the percentages of base pairs in the Genic, Proximal and Distal zones amounting to 45.1%, 31.1%, and 23.8% respectively of the total base pairs of the human genome. c Percentages of Genic-, Proximal-, and Distal-zone sequences in six different phases of DNA replication ranging from the earliest-replicating G1b to the latest-replicating G2 phases. Colored dashed lines indicate the 45.1% Genic-, 31.1% Proximal-, and 23.8% Distal-zone sequences of the human genome. G, Genic; P, Proximal; D, Distal