esv275327
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,521
- Publication(s):Banerjee et al. 2011
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: 175 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275327 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 230,055,271 | 230,065,181 | 230,065,384 | 230,068,791 |
| esv275327 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 230,191,018 | 230,200,928 | 230,201,131 | 230,204,538 |
| esv275327 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 228,257,641 | 228,267,551 | 228,267,754 | 228,271,161 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585140 | copy number loss | SNP array | Other |
| essv2585233 | copy number gain | SNP array | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585140 | Remapped | Perfect | NC_000001.11:g.(23 0055271_230065181) _(230065384_230068 791)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 230,055,271 | 230,065,181 | 230,065,384 | 230,068,791 |
| essv2585233 | Remapped | Perfect | NC_000001.11:g.(23 0055271_230065181) _(230065384_230068 791)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 230,055,271 | 230,065,181 | 230,065,384 | 230,068,791 |
| essv2585140 | Remapped | Perfect | NC_000001.10:g.(23 0191018_230200928) _(230201131_230204 538)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 230,191,018 | 230,200,928 | 230,201,131 | 230,204,538 |
| essv2585233 | Remapped | Perfect | NC_000001.10:g.(23 0191018_230200928) _(230201131_230204 538)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 230,191,018 | 230,200,928 | 230,201,131 | 230,204,538 |
| essv2585140 | Submitted genomic | NC_000001.9:g.(228 257641_228267551)_ (228267754_2282711 61)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 228,257,641 | 228,267,551 | 228,267,754 | 228,271,161 | ||
| essv2585233 | Submitted genomic | NC_000001.9:g.(228 257641_228267551)_ (228267754_2282711 61)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 228,257,641 | 228,267,551 | 228,267,754 | 228,271,161 |