Summary of analyzed blood group gene data
| Description . | n . | % . |
|---|---|---|
| Total number of base pairs analyzed | 1 745 931 | 100 |
| Exonic | 127 409 | 7.3 |
| Coding region | 62 961 | 3.6 |
| 5′ UTR | 9 697 | 0.56 |
| 3′ UTR | 54 751 | 3.1 |
| Intronic | 1 078 763 | 61.8 |
| 5′-flanking region | 450 822 | 25.8 |
| 3′-flanking region | 88 937 | 5.1 |
| Total number of variant sites | 51 955 | 100 |
| Total number of variants | 52 305 | 100 |
| Substitutions | 50 076 | 95.7 |
| Transitions | 34 340 | 65.7 |
| Transversions | 15 736 | 30.1 |
| Insertions/deletions | 2 168 | 4.1 |
| Insertions | 791 | 1.5 |
| Deletions | 1 375 | 2.6 |
| Indels | 2 | 0.0040 |
| Structural variants | 61 | 0.12 |
| Alu element insertions | 8 | 0.015 |
| Copy-number gains | 6 | 0.011 |
| Copy-number losses | 6 | 0.011 |
| Duplications | 7 | 0.013 |
| Large deletions | 34 | 0.065 |
| Description . | n . | % . |
|---|---|---|
| Total number of base pairs analyzed | 1 745 931 | 100 |
| Exonic | 127 409 | 7.3 |
| Coding region | 62 961 | 3.6 |
| 5′ UTR | 9 697 | 0.56 |
| 3′ UTR | 54 751 | 3.1 |
| Intronic | 1 078 763 | 61.8 |
| 5′-flanking region | 450 822 | 25.8 |
| 3′-flanking region | 88 937 | 5.1 |
| Total number of variant sites | 51 955 | 100 |
| Total number of variants | 52 305 | 100 |
| Substitutions | 50 076 | 95.7 |
| Transitions | 34 340 | 65.7 |
| Transversions | 15 736 | 30.1 |
| Insertions/deletions | 2 168 | 4.1 |
| Insertions | 791 | 1.5 |
| Deletions | 1 375 | 2.6 |
| Indels | 2 | 0.0040 |
| Structural variants | 61 | 0.12 |
| Alu element insertions | 8 | 0.015 |
| Copy-number gains | 6 | 0.011 |
| Copy-number losses | 6 | 0.011 |
| Duplications | 7 | 0.013 |
| Large deletions | 34 | 0.065 |