esv3693018
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:322,528
- 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: 4065 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 4069 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1254 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693018 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,857,464 | 12,179,991 |
| esv3693018 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 11,857,464 | 12,179,991 |
| esv3693018 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 11,847,464 | 12,169,991 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507768 | copy number loss | NA19221 | SNP array | Probe signal intensity | Healthy individuals | 1 | 15 |
| essv16508710 | copy number loss | NA19222 | SNP array | Probe signal intensity | Healthy individuals | 1 | 21 |
| essv16507302 | copy number loss | NA18859 | SNP array | Probe signal intensity | Healthy individuals | 1 | 18 |
| essv16507272 | copy number loss | NA19159 | SNP array | Probe signal intensity | Healthy individuals | 1 | 34 |
| essv16507618 | copy number loss | NA19161 | SNP array | Probe signal intensity | Healthy individuals | 1 | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507768 | Remapped | Perfect | NC_000009.12:g.(?_ 11857464)_(1217999 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,857,464 | 12,179,991 |
| essv16508710 | Remapped | Perfect | NC_000009.12:g.(?_ 11869293)_(1217999 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,869,293 | 12,179,991 |
| essv16507302 | Remapped | Perfect | NC_000009.12:g.(?_ 11874502)_(1190393 8_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,874,502 | 11,903,938 |
| essv16507272 | Remapped | Perfect | NC_000009.12:g.(?_ 11913010)_(1201037 4_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,913,010 | 12,010,374 |
| essv16507618 | Remapped | Perfect | NC_000009.12:g.(?_ 11913010)_(1201037 4_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,913,010 | 12,010,374 |
| essv16507768 | Remapped | Perfect | NC_000009.11:g.(?_ 11857464)_(1217999 1_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,857,464 | 12,179,991 |
| essv16508710 | Remapped | Perfect | NC_000009.11:g.(?_ 11869293)_(1217999 1_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,869,293 | 12,179,991 |
| essv16507302 | Remapped | Perfect | NC_000009.11:g.(?_ 11874502)_(1190393 8_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,874,502 | 11,903,938 |
| essv16507272 | Remapped | Perfect | NC_000009.11:g.(?_ 11913010)_(1201037 4_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,913,010 | 12,010,374 |
| essv16507618 | Remapped | Perfect | NC_000009.11:g.(?_ 11913010)_(1201037 4_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,913,010 | 12,010,374 |
| essv16507768 | Submitted genomic | NC_000009.10:g.(?_ 11847464)_(1216999 1_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,847,464 | 12,169,991 | ||
| essv16508710 | Submitted genomic | NC_000009.10:g.(?_ 11859293)_(1216999 1_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,859,293 | 12,169,991 | ||
| essv16507302 | Submitted genomic | NC_000009.10:g.(?_ 11864502)_(1189393 8_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,864,502 | 11,893,938 | ||
| essv16507272 | Submitted genomic | NC_000009.10:g.(?_ 11903010)_(1200037 4_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,903,010 | 12,000,374 | ||
| essv16507618 | Submitted genomic | NC_000009.10:g.(?_ 11903010)_(1200037 4_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,903,010 | 12,000,374 |