Table 2.
Table summarizing the proportion of called variants in publicly available data that fall in the abnormal regions identified in the current study.
| Total | LQ | LC | Combined (LQLC) | |
|---|---|---|---|---|
| % of genome | – | 13.85% | 26.6% | 33.07% |
| % of coding region | – | 13.89% | 17.72% | 26.37% |
| dbSNP variantsa | 52,634,111 | 19,121,760 (36.33%) | 15,483,445 (29.42%) | 27,009,232 (51.3%) |
| CNVRsb | 3,118 | 1,081 (34.66%) | 1,706 (54.71%) | 2,692 (86.3%) |
| RNA-seq genesc (intersecting bases) | 41,788,900 | 11,155,280 (26.69%) | 11,360,980 (27.19%) | 17,959,798 (42.98%) |
aData from dbSNP database (Sherry et al., 2001).
bData from Paudel et al. (2013).
cData from Ensembl (Cunningham et al., 2015).