esv3481381
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,801
- 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: 488 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 550 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 387 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 445 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3481381 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| esv3481381 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| esv3481381 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| esv3481381 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8141028 | deletion | SAMN00001578 | Sequencing | Paired-end mapping | 9,621 |
| essv8141029 | deletion | SAMN00801031 | Sequencing | Paired-end mapping | 9,208 |
| essv8141030 | deletion | SAMN00001695 | Sequencing | Paired-end mapping | 37,049 |
| essv8141032 | deletion | SAMN00001666 | Sequencing | Paired-end mapping | 11,359 |
| essv8141033 | deletion | SAMN00801237 | Sequencing | Paired-end mapping | 9,493 |
| essv8141034 | deletion | SAMN00001647 | Sequencing | Paired-end mapping | 26,594 |
| essv8141035 | deletion | SAMN00801682 | Sequencing | Paired-end mapping | 12,291 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8141028 | Remapped | Perfect | NT_187576.1:g.(487 443_487653)_(50326 6_503486)del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| essv8141029 | Remapped | Perfect | NT_187576.1:g.(487 443_487653)_(50326 6_503486)del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| essv8141030 | Remapped | Perfect | NT_187576.1:g.(487 443_487653)_(50326 6_503486)del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| essv8141032 | Remapped | Perfect | NT_187576.1:g.(487 443_487653)_(50326 6_503486)del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| essv8141033 | Remapped | Perfect | NT_187576.1:g.(487 443_487653)_(50326 6_503486)del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| essv8141034 | Remapped | Perfect | NT_187576.1:g.(487 443_487653)_(50326 6_503486)del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| essv8141035 | Remapped | Perfect | NT_187576.1:g.(487 443_487653)_(50326 6_503486)del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 487,579 (-136, +74) | 503,379 (-113, +107) |
| essv8141028 | Remapped | Perfect | NW_003571042.1:g.( 286844_287054)_(30 2667_302887)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| essv8141029 | Remapped | Perfect | NW_003571042.1:g.( 286844_287054)_(30 2667_302887)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| essv8141030 | Remapped | Perfect | NW_003571042.1:g.( 286844_287054)_(30 2667_302887)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| essv8141032 | Remapped | Perfect | NW_003571042.1:g.( 286844_287054)_(30 2667_302887)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| essv8141033 | Remapped | Perfect | NW_003571042.1:g.( 286844_287054)_(30 2667_302887)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| essv8141034 | Remapped | Perfect | NW_003571042.1:g.( 286844_287054)_(30 2667_302887)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| essv8141035 | Remapped | Perfect | NW_003571042.1:g.( 286844_287054)_(30 2667_302887)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 286,980 (-136, +74) | 302,780 (-113, +107) |
| essv8141028 | Remapped | Perfect | NC_000008.10:g.(22 52233_2252443)_(22 68056_2268276)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| essv8141029 | Remapped | Perfect | NC_000008.10:g.(22 52233_2252443)_(22 68056_2268276)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| essv8141030 | Remapped | Perfect | NC_000008.10:g.(22 52233_2252443)_(22 68056_2268276)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| essv8141032 | Remapped | Perfect | NC_000008.10:g.(22 52233_2252443)_(22 68056_2268276)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| essv8141033 | Remapped | Perfect | NC_000008.10:g.(22 52233_2252443)_(22 68056_2268276)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| essv8141034 | Remapped | Perfect | NC_000008.10:g.(22 52233_2252443)_(22 68056_2268276)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| essv8141035 | Remapped | Perfect | NC_000008.10:g.(22 52233_2252443)_(22 68056_2268276)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,252,369 (-136, +74) | 2,268,169 (-113, +107) |
| essv8141028 | Submitted genomic | NC_000008.9:g.(223 9640_2239850)_(225 5463_2255683)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) | ||
| essv8141029 | Submitted genomic | NC_000008.9:g.(223 9640_2239850)_(225 5463_2255683)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) | ||
| essv8141030 | Submitted genomic | NC_000008.9:g.(223 9640_2239850)_(225 5463_2255683)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) | ||
| essv8141032 | Submitted genomic | NC_000008.9:g.(223 9640_2239850)_(225 5463_2255683)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) | ||
| essv8141033 | Submitted genomic | NC_000008.9:g.(223 9640_2239850)_(225 5463_2255683)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) | ||
| essv8141034 | Submitted genomic | NC_000008.9:g.(223 9640_2239850)_(225 5463_2255683)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) | ||
| essv8141035 | Submitted genomic | NC_000008.9:g.(223 9640_2239850)_(225 5463_2255683)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,239,776 (-136, +74) | 2,255,576 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8141028 | 36 | SAMN00001578 | Digital array | Other | Pass |
| essv8141028 | 38 | SAMN00001578 | Digital array | Other | Pass |
| essv8141034 | 36 | SAMN00001647 | Digital array | Other | Pass |
| essv8141034 | 38 | SAMN00001647 | Digital array | Other | Pass |
| essv8141032 | 36 | SAMN00001666 | Digital array | Other | Pass |
| essv8141032 | 38 | SAMN00001666 | Digital array | Other | Pass |
| essv8141030 | 36 | SAMN00001695 | Digital array | Other | Pass |
| essv8141030 | 38 | SAMN00001695 | Digital array | Other | Pass |
| essv8141029 | 36 | SAMN00801031 | Digital array | Other | Pass |
| essv8141029 | 38 | SAMN00801031 | Digital array | Other | Pass |
| essv8141033 | 36 | SAMN00801237 | Digital array | Other | Pass |
| essv8141033 | 38 | SAMN00801237 | Digital array | Other | Pass |
| essv8141035 | 36 | SAMN00801682 | Digital array | Other | Pass |
| essv8141035 | 38 | SAMN00801682 | Digital array | Other | Pass |