From: Towards a comprehensive structural variation map of an individual human genome
 | Total non-redundant gainsb | Total non-redundant lossesc | ||||
---|---|---|---|---|---|---|
Genomic feature (number of entries)a | Number of (%) genomic features | Number of (%) structural variants | P-values | Number of (%) genomic features | Number of (%) structural variants | P-values |
RefSeq gene locid (20,174) | 14,268 (70.72%) | 159,250 (38.17%) | 0.000 | 13,951 (69.15%) | 149,568 (38.26%) | 0.000 |
RefSeq gene entire transcript locie (20,174) | 101 (0.50%) | 41 (0.01%) | 0.000 | 91 (0.45%) | 47 (0.01%) | 0.000 |
RefSeq gene exonsf (20,174) | 3,126 (15.50%) | 3,890 (0.93%) | 0.999 | 3,025 (14.99%) | 3,723 (0.95%) | 0.999 |
Enhancer elements (837) | 80 (9.56%) | 85 (0.02%) | 0.999 | 84 (10.04%) | 93 (0.02%) | 0.999 |
Promoters (20,174) | 2,007 (9.95%) | 2,071 (0.50%) | 0.999 | 1,812 (8.98%) | 1,922 (0.49%) | 0.999 |
Stop codonsg (30,885) | 225 (0.73%) | 99 (0.02%) | 0.000 | 272 (0.88%) | 134 (0.03%) | 0.563 |
OMIM disease gene loci (3,737) | 1,658 (44.37%) | 20,589 (4.93%) | 0.000 | 1,664 (44.53%) | 19,396 (4.96%) | 0.000 |
OMIM disease gene exons (3,737) | 367 (9.82%) | 458 (0.11%) | 0.999 | 383 (10.25%) | 492 (0.13%) | 0.999 |
Autosomal dominant gene loci (316) | 247 (78.16%) | 2,773 (0.66%) | 0.023 | 245 (77.53%) | 2,593 (0.66%) | 0.031 |
Autosomal dominant gene exons (316) | 60 (18.99%) | 70 (0.02%) | 0.999 | 64 (20.25%) | 78 (0.02%) | 0.999 |
Autosomal recessive gene loci (472) | 386 (81.78%) | 3,931 (0.94%) | 0.065 | 402 (85.17%) | 3,749 (0.96%) | 0.009 |
Autosomal recessive gene exons (472) | 58 (12.29%) | 78 (0.02%) | 0.999 | 86 (18.22%) | 109 (0.03%) | 0.999 |
Cancer disease gene loci (363) | 301 (82.92%) | 4,202 (1.01%) | 0.651 | 307 (84.57%) | 3,899 (1.00%) | 0.821 |
Cancer disease gene exons (363) | 66 (18.18%) | 85 (0.02%) | 0.999 | 71 (19.56%) | 98 (0.03%) | 0.999 |
Dosage sensitive gene loci (145) | 120 (82.76%) | 2,995 (0.72%) | 0.604 | 125 (86.21%) | 2,794 (0.71%) | 0.728 |
Dosage sensitive gene exons (145) | 39 (26.90%) | 51 (0.01%) | 0.999 | 41 (28.28%) | 58 (0.01%) | 0.999 |
Genomic disorders (52) | 50 (96.15%) | 14,178 (3.40%) | 0.999 | 51 (98.08%) | 13,373 (3.42%) | 0.996 |
Pharmacogenetic gene loci (186) | 97 (52.15%) | 853 (0.20%) | 0.517 | 96 (51.61%) | 838 (0.21%) | 0.105 |
Pharmacogenetic gene exons (186) | 21 (11.29%) | 27 (0.01%) | 0.998 | 23 (12.37%) | 29 (0.01%) | 0.984 |
Imprinted gene loci (59) | 39 (66.10%) | 405 (0.10%) | 0.989 | 37 (62.71%) | 378 (0.10%) | 0.982 |
Imprinted gene exons (59) | 13 (22.03%) | 15 (0.00%) | 0.998 | 11 (18.64%) | 13 (0.00%) | 0.999 |
MicroRNAs (685) | 8 (1.17%) | 9 (0.00%) | 0.785 | 11 (1.61%) | 9 (0.00%) | 0.836 |
GWAS loci (419) | 415 (99.05%) | 9,413 (2.26%) | 0.000 | 416 (99.28%) | 8,852 (2.26%) | 0.000 |
GWAS SNPs (419) | 1 (0.24%) | 1 (0.00%) | 0.786 | 2 (0.48%) | 2 (0.00%) | 0.810 |
CpG islands (14,867) | 287 (1.93%) | 1,516 (0.36%) | 0.999 | 299 (2.01%) | 1,508 (0.39%) | 0.999 |
DNAseI hypersensitivity sites (95,709) | 6,524 (6.82%) | 7,165 (1.72%) | 0.999 | 6,392 (6.68%) | 6,914 (1.77%) | 0.999 |
Recombination hotspots (32,996) | 16,839 (51.03%) | 30,315 (7.27%) | 0.000 | 16,211 (49.13%) | 28,407 (7.27%) | 0.000 |
Segmental duplications (51,809) | 17,172 (33.14%) | 13,864 (3.32%) | 0.999 | 16,518 (31.88%) | 13,177 (3.37%) | 0.999 |
Ultra-conserved elements (481) | 2 (0.42%) | 2 (0.00%) | 0.999 | 2 (0.42%) | 2 (0.00%) | 0.999 |
Affy 6.0 SNPsh (907,691) | 1,556 (0.17%) | 389 (0.09%) | 0.999 | 3,022 (0.33%) | 934 (0.24%) | 0.999 |
Illumina 1 M SNPsi (1,048,762) | 2,318 (0.22%) | 601 (0.14%) | 0.999 | 4,789 (0.46%) | 1,536 (0.39%) | 0.999 |