esv3401338
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Fail
- Clinical Assertions: No
- Region Size:58,563
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 219 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 55 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3401338 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| esv3401338 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| esv3401338 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8130604 | deletion | SAMN00001644 | Sequencing | Paired-end mapping | 14,069 |
| essv8130605 | deletion | SAMN00001548 | Sequencing | Paired-end mapping | 9,117 |
| essv8130606 | deletion | SAMN00001613 | Sequencing | Paired-end mapping | 15,037 |
| essv8130607 | deletion | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv8130608 | deletion | SAMN00001626 | Sequencing | Paired-end mapping | 11,564 |
| essv8130609 | deletion | SAMN00001591 | Sequencing | Paired-end mapping | 13,341 |
| essv8130611 | deletion | SAMN00001635 | Sequencing | Paired-end mapping | 14,152 |
| essv8130612 | deletion | SAMN00801682 | Sequencing | Paired-end mapping | 12,291 |
| essv8130613 | deletion | SAMN00001604 | Sequencing | Paired-end mapping | 13,004 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8130604 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130605 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130606 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130607 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130608 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130609 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130611 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130612 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130613 | Remapped | Perfect | NC_000007.14:g.(66 682506_66682716)_( 66741091_66741311) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,682,642 (-136, +74) | 66,741,204 (-113, +107) |
| essv8130604 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130605 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130606 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130607 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130608 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130609 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130611 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130612 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130613 | Remapped | Perfect | NC_000007.13:g.(66 147493_66147703)_( 66206078_66206298) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 66,147,629 (-136, +74) | 66,206,191 (-113, +107) |
| essv8130604 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130605 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130606 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130607 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130608 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130609 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130611 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130612 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) | ||
| essv8130613 | Submitted genomic | NC_000007.12:g.(65 784928_65785138)_( 65843513_65843733) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 65,785,064 (-136, +74) | 65,843,626 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8130605 | 36 | SAMN00001548 | Digital array | Other | Fail |
| essv8130605 | 38 | SAMN00001548 | Digital array | Other | Fail |
| essv8130609 | 36 | SAMN00001591 | Digital array | Other | Fail |
| essv8130609 | 38 | SAMN00001591 | Digital array | Other | Fail |
| essv8130613 | 36 | SAMN00001604 | Digital array | Other | Fail |
| essv8130613 | 38 | SAMN00001604 | Digital array | Other | Fail |
| essv8130606 | 36 | SAMN00001613 | Digital array | Other | Fail |
| essv8130606 | 38 | SAMN00001613 | Digital array | Other | Fail |
| essv8130608 | 36 | SAMN00001626 | Digital array | Other | Fail |
| essv8130608 | 38 | SAMN00001626 | Digital array | Other | Fail |
| essv8130611 | 36 | SAMN00001635 | Digital array | Other | Fail |
| essv8130611 | 38 | SAMN00001635 | Digital array | Other | Fail |
| essv8130604 | 36 | SAMN00001644 | Digital array | Other | Fail |
| essv8130604 | 38 | SAMN00001644 | Digital array | Other | Fail |
| essv8130607 | 36 | SAMN00800266 | Digital array | Other | Fail |
| essv8130607 | 38 | SAMN00800266 | Digital array | Other | Fail |
| essv8130612 | 36 | SAMN00801682 | Digital array | Other | Fail |
| essv8130612 | 38 | SAMN00801682 | Digital array | Other | Fail |