esv2738207
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:243,987
- Publication(s):Wong et al. 2013
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: 3544 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 3548 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2738207 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,933,674 | 12,177,660 |
| esv2738207 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,933,674 | 12,177,660 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6856380 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6723988 | deletion | SSM045 | Sequencing | Paired-end mapping | 3,460 |
| essv6873327 | deletion | SSM091 | Sequencing | Paired-end mapping | 2,687 |
| essv6805995 | deletion | SSM074 | Sequencing | Paired-end mapping | 2,676 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6856380 | Remapped | Perfect | NC_000009.12:g.(11 933674_?)_(?_12177 660)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,933,674 | 12,177,660 |
| essv6723988 | Remapped | Perfect | NC_000009.12:g.(12 034144_?)_(?_12034 298)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,034,144 | 12,034,298 |
| essv6873327 | Remapped | Perfect | NC_000009.12:g.(12 162222_?)_(?_12163 039)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,162,222 | 12,163,039 |
| essv6805995 | Remapped | Perfect | NC_000009.12:g.(12 162222_?)_(?_12163 075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,162,222 | 12,163,075 |
| essv6856380 | Submitted genomic | NC_000009.11:g.(11 933674_?)_(?_12177 660)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,933,674 | 12,177,660 | ||
| essv6723988 | Submitted genomic | NC_000009.11:g.(12 034144_?)_(?_12034 298)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 12,034,144 | 12,034,298 | ||
| essv6873327 | Submitted genomic | NC_000009.11:g.(12 162222_?)_(?_12163 039)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 12,162,222 | 12,163,039 | ||
| essv6805995 | Submitted genomic | NC_000009.11:g.(12 162222_?)_(?_12163 075)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 12,162,222 | 12,163,075 |