esv3893853
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,384
- Publication(s):Suktitipat et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 451 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 451 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3893853 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 197,394,722 | 197,400,652 | 197,422,113 | 197,436,105 |
| esv3893853 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 124,180 | 138,172 | 162,429 | - |
| esv3893853 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 197,121,593 | 197,127,523 | 197,148,984 | 197,162,976 |
| esv3893853 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 198,605,990 | 198,611,920 | 198,633,381 | 198,647,373 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25789511 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25797269 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25797669 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25797688 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25789511 | Remapped | Perfect | NT_187534.1:g.(?_1 24180)_(160853_?)d up | GRCh38.p12 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 124,180 | 160,853 |
| essv25797269 | Remapped | Perfect | NT_187534.1:g.(?_1 38172)_(159633_?)d el | GRCh38.p12 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 138,172 | 159,633 |
| essv25797669 | Remapped | Pass | NT_187534.1:g.(?_1 38172)_(162429_?)d el | GRCh38.p12 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 138,172 | 162,429 |
| essv25797688 | Remapped | Pass | NT_187534.1:g.(?_1 38172)_(162429_?)d el | GRCh38.p12 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 138,172 | 162,429 |
| essv25797669 | Remapped | Perfect | NC_000003.12:g.(?_ 197394722)_(197422 113_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 197,394,722 | 197,422,113 |
| essv25797688 | Remapped | Perfect | NC_000003.12:g.(?_ 197394722)_(197422 113_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 197,394,722 | 197,422,113 |
| essv25789511 | Remapped | Perfect | NC_000003.12:g.(?_ 197399432)_(197436 105_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 197,399,432 | 197,436,105 |
| essv25797269 | Remapped | Perfect | NC_000003.12:g.(?_ 197400652)_(197422 113_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 197,400,652 | 197,422,113 |
| essv25797669 | Remapped | Perfect | NC_000003.11:g.(?_ 197121593)_(197148 984_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 197,121,593 | 197,148,984 |
| essv25797688 | Remapped | Perfect | NC_000003.11:g.(?_ 197121593)_(197148 984_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 197,121,593 | 197,148,984 |
| essv25789511 | Remapped | Perfect | NC_000003.11:g.(?_ 197126303)_(197162 976_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 197,126,303 | 197,162,976 |
| essv25797269 | Remapped | Perfect | NC_000003.11:g.(?_ 197127523)_(197148 984_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 197,127,523 | 197,148,984 |
| essv25797669 | Submitted genomic | NC_000003.10:g.(?_ 198605990)_(198633 381_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 198,605,990 | 198,633,381 | ||
| essv25797688 | Submitted genomic | NC_000003.10:g.(?_ 198605990)_(198633 381_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 198,605,990 | 198,633,381 | ||
| essv25789511 | Submitted genomic | NC_000003.10:g.(?_ 198610700)_(198647 373_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 198,610,700 | 198,647,373 | ||
| essv25797269 | Submitted genomic | NC_000003.10:g.(?_ 198611920)_(198633 381_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 198,611,920 | 198,633,381 |