esv3693091
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52,004
- Publication(s):Palta et al. 2015
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: 392 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 392 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3693091 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 195,438,277 | 195,490,280 |
| esv3693091 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 195,407,407 | 195,459,410 |
| esv3693091 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 193,674,030 | 193,726,033 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507130 | copy number gain | NA19152 | SNP array | Probe signal intensity | Healthy individuals | 3 | 17 |
| essv16508021 | copy number gain | NA19209 | SNP array | Probe signal intensity | Healthy individuals | 3 | 20 |
| essv16509184 | copy number gain | NA19154 | SNP array | Probe signal intensity | Healthy individuals | 3 | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507130 | Remapped | Perfect | NC_000001.11:g.(?_ 195438277)_(195490 280_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,438,277 | 195,490,280 |
| essv16508021 | Remapped | Perfect | NC_000001.11:g.(?_ 195438277)_(195490 280_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,438,277 | 195,490,280 |
| essv16509184 | Remapped | Perfect | NC_000001.11:g.(?_ 195438277)_(195490 280_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,438,277 | 195,490,280 |
| essv16507130 | Remapped | Perfect | NC_000001.10:g.(?_ 195407407)_(195459 410_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,407,407 | 195,459,410 |
| essv16508021 | Remapped | Perfect | NC_000001.10:g.(?_ 195407407)_(195459 410_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,407,407 | 195,459,410 |
| essv16509184 | Remapped | Perfect | NC_000001.10:g.(?_ 195407407)_(195459 410_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,407,407 | 195,459,410 |
| essv16507130 | Submitted genomic | NC_000001.9:g.(?_1 93674030)_(1937260 33_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 193,674,030 | 193,726,033 | ||
| essv16508021 | Submitted genomic | NC_000001.9:g.(?_1 93674030)_(1937260 33_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 193,674,030 | 193,726,033 | ||
| essv16509184 | Submitted genomic | NC_000001.9:g.(?_1 93674030)_(1937260 33_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 193,674,030 | 193,726,033 |