esv3452979
- 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:20,619
- 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: 1099 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1099 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 774 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3452979 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| esv3452979 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| esv3452979 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9315240 | deletion | SAMN00001673 | Sequencing | Read depth | 7,469 |
| essv9315241 | deletion | SAMN00801770 | Sequencing | Read depth | 10,623 |
| essv9315242 | deletion | SAMN00001591 | Sequencing | Read depth | 13,341 |
| essv9315243 | deletion | SAMN00001678 | Sequencing | Read depth | 11,740 |
| essv9315244 | deletion | SAMN00001569 | Sequencing | Read depth | 9,598 |
| essv9315245 | deletion | SAMN00797154 | Sequencing | Read depth | 12,042 |
| essv9315246 | deletion | SAMN00001552 | Sequencing | Read depth | 19,162 |
| essv9315248 | deletion | SAMN00001600 | Sequencing | Read depth | 15,861 |
| essv9315249 | deletion | SAMN00001665 | Sequencing | Read depth | 11,494 |
| essv9315250 | deletion | SAMN00001548 | Sequencing | Read depth | 9,117 |
| essv9315251 | deletion | SAMN00001621 | Sequencing | Read depth | 15,382 |
| essv9315252 | deletion | SAMN00800835 | Sequencing | Read depth | 10,547 |
| essv9315253 | deletion | SAMN00001637 | Sequencing | Read depth | 13,785 |
| essv9315254 | deletion | SAMN00001579 | Sequencing | Read depth | 10,322 |
| essv9315255 | deletion | SAMN00001612 | Sequencing | Read depth | 15,685 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9315240 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315241 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315242 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315243 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315244 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315245 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315246 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315248 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315249 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315250 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315251 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315252 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315253 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315254 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315255 | Remapped | Perfect | NC_000001.11:g.(10 3629307_103631607) _(103651505_103653 805)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,631,267 (-1960, +340) | 103,651,885 (-380, +1920) |
| essv9315240 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315241 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315242 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315243 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315244 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315245 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315246 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315248 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315249 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315250 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315251 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315252 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315253 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315254 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315255 | Remapped | Perfect | NC_000001.10:g.(10 4171929_104174229) _(104194127_104196 427)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,173,889 (-1960, +340) | 104,194,507 (-380, +1920) |
| essv9315240 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315241 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315242 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315243 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315244 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315245 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315246 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315248 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315249 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315250 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315251 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315252 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315253 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315254 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) | ||
| essv9315255 | Submitted genomic | NC_000001.9:g.(103 973452_103975752)_ (103995650_1039979 50)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,975,412 (-1960, +340) | 103,996,030 (-380, +1920) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9315250 | 36 | SAMN00001548 | Digital array | Other | Pass |
| essv9315250 | 38 | SAMN00001548 | Digital array | Other | Pass |
| essv9315246 | 36 | SAMN00001552 | Digital array | Other | Pass |
| essv9315246 | 38 | SAMN00001552 | Digital array | Other | Pass |
| essv9315244 | 36 | SAMN00001569 | Digital array | Other | Pass |
| essv9315244 | 38 | SAMN00001569 | Digital array | Other | Pass |
| essv9315254 | 36 | SAMN00001579 | Digital array | Other | Pass |
| essv9315254 | 38 | SAMN00001579 | Digital array | Other | Pass |
| essv9315242 | 36 | SAMN00001591 | Digital array | Other | Pass |
| essv9315242 | 38 | SAMN00001591 | Digital array | Other | Pass |
| essv9315248 | 36 | SAMN00001600 | Digital array | Other | Pass |
| essv9315248 | 38 | SAMN00001600 | Digital array | Other | Pass |
| essv9315255 | 36 | SAMN00001612 | Digital array | Other | Pass |
| essv9315255 | 38 | SAMN00001612 | Digital array | Other | Pass |
| essv9315251 | 36 | SAMN00001621 | Digital array | Other | Pass |
| essv9315251 | 38 | SAMN00001621 | Digital array | Other | Pass |
| essv9315253 | 36 | SAMN00001637 | Digital array | Other | Pass |
| essv9315253 | 38 | SAMN00001637 | Digital array | Other | Pass |
| essv9315249 | 36 | SAMN00001665 | Digital array | Other | Pass |
| essv9315249 | 38 | SAMN00001665 | Digital array | Other | Pass |
| essv9315240 | 36 | SAMN00001673 | Digital array | Other | Pass |
| essv9315240 | 38 | SAMN00001673 | Digital array | Other | Pass |
| essv9315243 | 36 | SAMN00001678 | Digital array | Other | Pass |
| essv9315243 | 38 | SAMN00001678 | Digital array | Other | Pass |
| essv9315245 | 36 | SAMN00797154 | Digital array | Other | Pass |
| essv9315245 | 38 | SAMN00797154 | Digital array | Other | Pass |
| essv9315252 | 36 | SAMN00800835 | Digital array | Other | Pass |
| essv9315252 | 38 | SAMN00800835 | Digital array | Other | Pass |
| essv9315241 | 36 | SAMN00801770 | Digital array | Other | Pass |
| essv9315241 | 38 | SAMN00801770 | Digital array | Other | Pass |