esv3376437
- 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:12,839
- 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: 154 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3376437 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| esv3376437 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| esv3376437 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7893580 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 12,092 |
| essv7893581 | deletion | SAMN00001685 | Sequencing | Paired-end mapping | 10,254 |
| essv7893582 | deletion | SAMN00001665 | Sequencing | Paired-end mapping | 11,494 |
| essv7893583 | deletion | SAMN00001592 | Sequencing | Paired-end mapping | 12,716 |
| essv7893584 | deletion | SAMN00001684 | Sequencing | Paired-end mapping | 9,989 |
| essv7893586 | deletion | SAMN00001663 | Sequencing | Paired-end mapping | 12,931 |
| essv7893587 | deletion | SAMN00001630 | Sequencing | Paired-end mapping | 10,735 |
| essv7893588 | deletion | SAMN00001585 | Sequencing | Paired-end mapping | 11,247 |
| essv7893589 | deletion | SAMN00001577 | Sequencing | Paired-end mapping | 9,631 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7893580 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893581 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893582 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893583 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893584 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893586 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893587 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893588 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893589 | Remapped | Perfect | NC_000004.12:g.(15 612340_15612540)_( 15625131_15625321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 15,612,413 (-73, +127) | 15,625,251 (-120, +70) |
| essv7893580 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893581 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893582 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893583 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893584 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893586 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893587 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893588 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893589 | Remapped | Perfect | NC_000004.11:g.(15 613963_15614163)_( 15626754_15626944) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 15,614,036 (-73, +127) | 15,626,874 (-120, +70) |
| essv7893580 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893581 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893582 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893583 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893584 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893586 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893587 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893588 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) | ||
| essv7893589 | Submitted genomic | NC_000004.10:g.(15 223061_15223261)_( 15235852_15236042) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 15,223,134 (-73, +127) | 15,235,972 (-120, +70) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7893589 | 36 | SAMN00001577 | Digital array | Other | Fail |
| essv7893589 | 38 | SAMN00001577 | Digital array | Other | Fail |
| essv7893580 | 36 | SAMN00001583 | Digital array | Other | Fail |
| essv7893580 | 38 | SAMN00001583 | Digital array | Other | Fail |
| essv7893588 | 36 | SAMN00001585 | Digital array | Other | Fail |
| essv7893588 | 38 | SAMN00001585 | Digital array | Other | Fail |
| essv7893583 | 36 | SAMN00001592 | Digital array | Other | Fail |
| essv7893583 | 38 | SAMN00001592 | Digital array | Other | Fail |
| essv7893587 | 36 | SAMN00001630 | Digital array | Other | Fail |
| essv7893587 | 38 | SAMN00001630 | Digital array | Other | Fail |
| essv7893586 | 36 | SAMN00001663 | Digital array | Other | Fail |
| essv7893586 | 38 | SAMN00001663 | Digital array | Other | Fail |
| essv7893582 | 36 | SAMN00001665 | Digital array | Other | Fail |
| essv7893582 | 38 | SAMN00001665 | Digital array | Other | Fail |
| essv7893584 | 36 | SAMN00001684 | Digital array | Other | Fail |
| essv7893584 | 38 | SAMN00001684 | Digital array | Other | Fail |
| essv7893581 | 36 | SAMN00001685 | Digital array | Other | Fail |
| essv7893581 | 38 | SAMN00001685 | Digital array | Other | Fail |