esv3440413
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Fail
- Clinical Assertions: No
- Region Size:49,427
- 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: 203 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3440413 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| esv3440413 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| esv3440413 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8116429 | deletion | SAMN00001627 | Sequencing | Paired-end mapping | 11,565 |
| essv8116430 | deletion | SAMN00001621 | Sequencing | Paired-end mapping | 15,382 |
| essv8116431 | deletion | SAMN00797154 | Sequencing | Paired-end mapping | 12,042 |
| essv8116433 | deletion | SAMN00001585 | Sequencing | Paired-end mapping | 11,247 |
| essv8116434 | deletion | SAMN00797406 | Sequencing | Paired-end mapping | 9,724 |
| essv8116435 | deletion | SAMN00001624 | Sequencing | Paired-end mapping | 10,264 |
| essv8116436 | deletion | SAMN00001648 | Sequencing | Paired-end mapping | 15,747 |
| essv8116437 | deletion | SAMN00801684 | Sequencing | Paired-end mapping | 16,980 |
| essv8116438 | deletion | SAMN00797054 | Sequencing | Paired-end mapping | 11,153 |
| essv8116439 | deletion | SAMN00001580 | Sequencing | Paired-end mapping | 12,837 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8116429 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116430 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116431 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116433 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116434 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116435 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116436 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116437 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116438 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116439 | Remapped | Perfect | NC_000006.12:g.(74 031972_74032182)_( 74081421_74081641) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,108 (-136, +74) | 74,081,534 (-113, +107) |
| essv8116429 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116430 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116431 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116433 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116434 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116435 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116436 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116437 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116438 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116439 | Remapped | Perfect | NC_000006.11:g.(74 741688_74741898)_( 74791137_74791357) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 74,741,824 (-136, +74) | 74,791,250 (-113, +107) |
| essv8116429 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116430 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116431 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116433 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116434 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116435 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116436 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116437 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116438 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) | ||
| essv8116439 | Submitted genomic | NC_000006.10:g.(74 798408_74798618)_( 74847857_74848077) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 74,798,544 (-136, +74) | 74,847,970 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8116439 | 36 | SAMN00001580 | Digital array | Other | Fail |
| essv8116439 | 38 | SAMN00001580 | Digital array | Other | Fail |
| essv8116433 | 36 | SAMN00001585 | Digital array | Other | Fail |
| essv8116433 | 38 | SAMN00001585 | Digital array | Other | Fail |
| essv8116430 | 36 | SAMN00001621 | Digital array | Other | Fail |
| essv8116430 | 38 | SAMN00001621 | Digital array | Other | Fail |
| essv8116435 | 36 | SAMN00001624 | Digital array | Other | Fail |
| essv8116435 | 38 | SAMN00001624 | Digital array | Other | Fail |
| essv8116429 | 36 | SAMN00001627 | Digital array | Other | Fail |
| essv8116429 | 38 | SAMN00001627 | Digital array | Other | Fail |
| essv8116436 | 36 | SAMN00001648 | Digital array | Other | Fail |
| essv8116436 | 38 | SAMN00001648 | Digital array | Other | Fail |
| essv8116438 | 36 | SAMN00797054 | Digital array | Other | Fail |
| essv8116438 | 38 | SAMN00797054 | Digital array | Other | Fail |
| essv8116431 | 36 | SAMN00797154 | Digital array | Other | Fail |
| essv8116431 | 38 | SAMN00797154 | Digital array | Other | Fail |
| essv8116434 | 36 | SAMN00797406 | Digital array | Other | Fail |
| essv8116434 | 38 | SAMN00797406 | Digital array | Other | Fail |
| essv8116437 | 36 | SAMN00801684 | Digital array | Other | Fail |
| essv8116437 | 38 | SAMN00801684 | Digital array | Other | Fail |