esv3475160
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Fail
- Clinical Assertions: No
- Region Size:48,086
- 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: 156 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3475160 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| esv3475160 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| esv3475160 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8121808 | deletion | SAMN00001607 | Sequencing | Paired-end mapping | 9,760 |
| essv8121810 | deletion | SAMN00001634 | Sequencing | Paired-end mapping | 14,025 |
| essv8121811 | deletion | SAMN00001663 | Sequencing | Paired-end mapping | 12,931 |
| essv8121812 | deletion | SAMN00001666 | Sequencing | Paired-end mapping | 11,359 |
| essv8121813 | deletion | SAMN00001620 | Sequencing | Paired-end mapping | 9,873 |
| essv8121814 | deletion | SAMN00797406 | Sequencing | Paired-end mapping | 9,724 |
| essv8121815 | deletion | SAMN00801031 | Sequencing | Paired-end mapping | 9,208 |
| essv8121816 | deletion | SAMN00001585 | Sequencing | Paired-end mapping | 11,247 |
| essv8121817 | deletion | SAMN00801680 | Sequencing | Paired-end mapping | 19,937 |
| essv8121818 | deletion | SAMN00001642 | Sequencing | Paired-end mapping | 13,338 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8121808 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121810 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121811 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121812 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121813 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121814 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121815 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121816 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121817 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121818 | Remapped | Perfect | NC_000006.12:g.(13 8907199_138907409) _(138955307_138955 527)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 138,907,335 (-136, +74) | 138,955,420 (-113, +107) |
| essv8121808 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121810 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121811 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121812 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121813 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121814 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121815 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121816 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121817 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121818 | Remapped | Perfect | NC_000006.11:g.(13 9228336_139228546) _(139276444_139276 664)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 139,228,472 (-136, +74) | 139,276,557 (-113, +107) |
| essv8121808 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121810 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121811 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121812 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121813 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121814 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121815 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121816 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121817 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) | ||
| essv8121818 | Submitted genomic | NC_000006.10:g.(13 9270029_139270239) _(139318137_139318 357)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 139,270,165 (-136, +74) | 139,318,250 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8121816 | 36 | SAMN00001585 | Digital array | Other | Fail |
| essv8121816 | 38 | SAMN00001585 | Digital array | Other | Fail |
| essv8121808 | 36 | SAMN00001607 | Digital array | Other | Fail |
| essv8121808 | 38 | SAMN00001607 | Digital array | Other | Fail |
| essv8121813 | 36 | SAMN00001620 | Digital array | Other | Fail |
| essv8121813 | 38 | SAMN00001620 | Digital array | Other | Fail |
| essv8121810 | 36 | SAMN00001634 | Digital array | Other | Fail |
| essv8121810 | 38 | SAMN00001634 | Digital array | Other | Fail |
| essv8121818 | 36 | SAMN00001642 | Digital array | Other | Fail |
| essv8121818 | 38 | SAMN00001642 | Digital array | Other | Fail |
| essv8121811 | 36 | SAMN00001663 | Digital array | Other | Fail |
| essv8121811 | 38 | SAMN00001663 | Digital array | Other | Fail |
| essv8121812 | 36 | SAMN00001666 | Digital array | Other | Fail |
| essv8121812 | 38 | SAMN00001666 | Digital array | Other | Fail |
| essv8121814 | 36 | SAMN00797406 | Digital array | Other | Fail |
| essv8121814 | 38 | SAMN00797406 | Digital array | Other | Fail |
| essv8121815 | 36 | SAMN00801031 | Digital array | Other | Fail |
| essv8121815 | 38 | SAMN00801031 | Digital array | Other | Fail |
| essv8121817 | 36 | SAMN00801680 | Digital array | Other | Fail |
| essv8121817 | 38 | SAMN00801680 | Digital array | Other | Fail |