esv3462460
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Yes
- Clinical Assertions: No
- Region Size:24,977
- 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: 490 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 490 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3462460 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| esv3462460 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| esv3462460 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7967098 | deletion | SAMN00801031 | Sequencing | Paired-end mapping | 9,208 |
| essv7967109 | deletion | SAMN00801646 | Sequencing | Paired-end mapping | 11,757 |
| essv7967120 | deletion | SAMN00801103 | Sequencing | Paired-end mapping | 9,141 |
| essv7967131 | deletion | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv7967142 | deletion | SAMN00001546 | Sequencing | Paired-end mapping | 15,275 |
| essv7967154 | deletion | SAMN00801099 | Sequencing | Paired-end mapping | 14,647 |
| essv7967165 | deletion | SAMN00001530 | Sequencing | Paired-end mapping | 9,564 |
| essv7967176 | deletion | SAMN00801049 | Sequencing | Paired-end mapping | 10,931 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7967098 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967109 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967120 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967131 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967142 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967154 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967165 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967176 | Remapped | Perfect | NC_000003.12:g.(12 8660108_128660226) _(128685085_128685 186)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,660,178 (-70, +48) | 128,685,154 (-69, +32) |
| essv7967098 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967109 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967120 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967131 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967142 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967154 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967165 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967176 | Remapped | Perfect | NC_000003.11:g.(12 8378951_128379069) _(128403928_128404 029)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 128,379,021 (-70, +48) | 128,403,997 (-69, +32) |
| essv7967098 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) | ||
| essv7967109 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) | ||
| essv7967120 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) | ||
| essv7967131 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) | ||
| essv7967142 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) | ||
| essv7967154 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) | ||
| essv7967165 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) | ||
| essv7967176 | Submitted genomic | NC_000003.10:g.(12 9861641_129861759) _(129886618_129886 719)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 129,861,711 (-70, +48) | 129,886,687 (-69, +32) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7967165 | 36 | SAMN00001530 | Digital array | Other | Fail |
| essv7967142 | 36 | SAMN00001546 | Digital array | Other | Fail |
| essv7967131 | 36 | SAMN00800266 | Digital array | Other | Fail |
| essv7967098 | 36 | SAMN00801031 | Digital array | Other | Fail |
| essv7967176 | 36 | SAMN00801049 | Digital array | Other | Fail |
| essv7967154 | 36 | SAMN00801099 | Digital array | Other | Fail |
| essv7967120 | 36 | SAMN00801103 | Digital array | Other | Fail |
| essv7967109 | 36 | SAMN00801646 | Digital array | Other | Fail |
| essv7967165 | 38 | SAMN00001530 | Digital array | Other | Pass |
| essv7967142 | 38 | SAMN00001546 | Digital array | Other | Pass |
| essv7967131 | 38 | SAMN00800266 | Digital array | Other | Pass |
| essv7967098 | 38 | SAMN00801031 | Digital array | Other | Pass |
| essv7967176 | 38 | SAMN00801049 | Digital array | Other | Pass |
| essv7967154 | 38 | SAMN00801099 | Digital array | Other | Pass |
| essv7967120 | 38 | SAMN00801103 | Digital array | Other | Pass |
| essv7967109 | 38 | SAMN00801646 | Digital array | Other | Pass |
| essv7967165 | 37 | SAMN00001530 | Sequencing | de novo sequence assembly | Pass |
| essv7967142 | 37 | SAMN00001546 | Sequencing | de novo sequence assembly | Pass |
| essv7967131 | 37 | SAMN00800266 | Sequencing | de novo sequence assembly | Pass |
| essv7967098 | 37 | SAMN00801031 | Sequencing | de novo sequence assembly | Pass |
| essv7967176 | 37 | SAMN00801049 | Sequencing | de novo sequence assembly | Pass |
| essv7967154 | 37 | SAMN00801099 | Sequencing | de novo sequence assembly | Pass |
| essv7967120 | 37 | SAMN00801103 | Sequencing | de novo sequence assembly | Pass |
| essv7967109 | 37 | SAMN00801646 | Sequencing | de novo sequence assembly | Pass |