esv3464074
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Yes
- Clinical Assertions: No
- Region Size:27,482
- 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: 180 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3464074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| esv3464074 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| esv3464074 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7652843 | deletion | SAMN00001611 | Sequencing | Split read mapping | 14,683 |
| essv7652844 | deletion | SAMN00801684 | Sequencing | Split read mapping | 16,980 |
| essv7652845 | deletion | SAMN00001641 | Sequencing | Split read mapping | 13,653 |
| essv7652846 | deletion | SAMN00001615 | Sequencing | Split read mapping | 9,351 |
| essv7652847 | deletion | SAMN00001530 | Sequencing | Split read mapping | 9,564 |
| essv7652848 | deletion | SAMN00001548 | Sequencing | Split read mapping | 9,117 |
| essv7652849 | deletion | SAMN00001649 | Sequencing | Split read mapping | 13,082 |
| essv7652850 | deletion | SAMN00801912 | Sequencing | Split read mapping | 25,841 |
| essv7652851 | deletion | SAMN00001609 | Sequencing | Split read mapping | 14,604 |
| essv7652852 | deletion | SAMN00801708 | Sequencing | Split read mapping | 16,085 |
| essv7652854 | deletion | SAMN00001607 | Sequencing | Split read mapping | 9,760 |
| essv7652855 | deletion | SAMN00797154 | Sequencing | Split read mapping | 12,042 |
| essv7652856 | deletion | SAMN00001638 | Sequencing | Split read mapping | 14,476 |
| essv7652857 | deletion | SAMN00001610 | Sequencing | Split read mapping | 15,427 |
| essv7652858 | deletion | SAMN00001597 | Sequencing | Split read mapping | 14,192 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7652843 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652844 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652845 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652846 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652847 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652848 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652849 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652850 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652851 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652852 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652854 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652855 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652856 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652857 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652858 | Remapped | Perfect | NC_000003.12:g.(12 3490414_123490434) _(123517896_123517 915)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 123,490,429 (-15, +5) | 123,517,910 (-14, +5) |
| essv7652843 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652844 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652845 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652846 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652847 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652848 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652849 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652850 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652851 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652852 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652854 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652855 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652856 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652857 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652858 | Remapped | Perfect | NC_000003.11:g.(12 3209261_123209281) _(123236743_123236 762)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 123,209,276 (-15, +5) | 123,236,757 (-14, +5) |
| essv7652843 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652844 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652845 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652846 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652847 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652848 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652849 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652850 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652851 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652852 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652854 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652855 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652856 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652857 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) | ||
| essv7652858 | Submitted genomic | NC_000003.10:g.(12 4691951_124691971) _(124719433_124719 452)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 124,691,966 (-15, +5) | 124,719,447 (-14, +5) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7652847 | 36 | SAMN00001530 | Digital array | Other | Fail |
| essv7652848 | 36 | SAMN00001548 | Digital array | Other | Fail |
| essv7652858 | 36 | SAMN00001597 | Digital array | Other | Fail |
| essv7652854 | 36 | SAMN00001607 | Digital array | Other | Fail |
| essv7652851 | 36 | SAMN00001609 | Digital array | Other | Fail |
| essv7652857 | 36 | SAMN00001610 | Digital array | Other | Fail |
| essv7652843 | 36 | SAMN00001611 | Digital array | Other | Fail |
| essv7652846 | 36 | SAMN00001615 | Digital array | Other | Fail |
| essv7652856 | 36 | SAMN00001638 | Digital array | Other | Fail |
| essv7652845 | 36 | SAMN00001641 | Digital array | Other | Fail |
| essv7652849 | 36 | SAMN00001649 | Digital array | Other | Fail |
| essv7652855 | 36 | SAMN00797154 | Digital array | Other | Fail |
| essv7652844 | 36 | SAMN00801684 | Digital array | Other | Fail |
| essv7652852 | 36 | SAMN00801708 | Digital array | Other | Fail |
| essv7652850 | 36 | SAMN00801912 | Digital array | Other | Fail |
| essv7652847 | 38 | SAMN00001530 | Digital array | Other | Pass |
| essv7652848 | 38 | SAMN00001548 | Digital array | Other | Pass |
| essv7652858 | 38 | SAMN00001597 | Digital array | Other | Pass |
| essv7652854 | 38 | SAMN00001607 | Digital array | Other | Pass |
| essv7652851 | 38 | SAMN00001609 | Digital array | Other | Pass |
| essv7652857 | 38 | SAMN00001610 | Digital array | Other | Pass |
| essv7652843 | 38 | SAMN00001611 | Digital array | Other | Pass |
| essv7652846 | 38 | SAMN00001615 | Digital array | Other | Pass |
| essv7652856 | 38 | SAMN00001638 | Digital array | Other | Pass |
| essv7652845 | 38 | SAMN00001641 | Digital array | Other | Pass |
| essv7652849 | 38 | SAMN00001649 | Digital array | Other | Pass |
| essv7652855 | 38 | SAMN00797154 | Digital array | Other | Pass |
| essv7652844 | 38 | SAMN00801684 | Digital array | Other | Pass |
| essv7652852 | 38 | SAMN00801708 | Digital array | Other | Pass |
| essv7652850 | 38 | SAMN00801912 | Digital array | Other | Pass |
| essv7652847 | 37 | SAMN00001530 | Sequencing | de novo sequence assembly | Pass |
| essv7652848 | 37 | SAMN00001548 | Sequencing | de novo sequence assembly | Pass |
| essv7652858 | 37 | SAMN00001597 | Sequencing | de novo sequence assembly | Pass |
| essv7652854 | 37 | SAMN00001607 | Sequencing | de novo sequence assembly | Pass |
| essv7652851 | 37 | SAMN00001609 | Sequencing | de novo sequence assembly | Pass |
| essv7652857 | 37 | SAMN00001610 | Sequencing | de novo sequence assembly | Pass |
| essv7652843 | 37 | SAMN00001611 | Sequencing | de novo sequence assembly | Pass |
| essv7652846 | 37 | SAMN00001615 | Sequencing | de novo sequence assembly | Pass |
| essv7652856 | 37 | SAMN00001638 | Sequencing | de novo sequence assembly | Pass |
| essv7652845 | 37 | SAMN00001641 | Sequencing | de novo sequence assembly | Pass |
| essv7652849 | 37 | SAMN00001649 | Sequencing | de novo sequence assembly | Pass |
| essv7652855 | 37 | SAMN00797154 | Sequencing | de novo sequence assembly | Pass |
| essv7652844 | 37 | SAMN00801684 | Sequencing | de novo sequence assembly | Pass |
| essv7652852 | 37 | SAMN00801708 | Sequencing | de novo sequence assembly | Pass |
| essv7652850 | 37 | SAMN00801912 | Sequencing | de novo sequence assembly | Pass |