esv2667620
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,648
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 311 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2667620 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| esv2667620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5428625 | deletion | SAMN00001194 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,133 |
| essv5430581 | deletion | SAMN00001166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,284 |
| essv5465375 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
| essv5525786 | deletion | SAMN00001120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
| essv5647538 | deletion | SAMN00001182 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv5681735 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv5735150 | deletion | SAMN00001106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 953 |
| essv5926793 | deletion | SAMN00001102 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,259 |
| essv5961843 | deletion | SAMN00001162 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,432 |
| essv5999811 | deletion | SAMN00001181 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,016 |
| essv6005183 | deletion | SAMN00001121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,383 |
| essv6122616 | deletion | SAMN00001188 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,129 |
| essv6138648 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
| essv6291271 | deletion | SAMN00001165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,213 |
| essv6337394 | deletion | SAMN00001129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,603 |
| essv6430160 | deletion | SAMN00001173 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,274 |
| essv6445281 | deletion | SAMN00001159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
| essv6487140 | deletion | SAMN00001168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,626 |
| essv6519950 | deletion | SAMN00001118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
| essv6556231 | deletion | SAMN00001160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,151 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5428625 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5430581 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5465375 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5525786 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5647538 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5681735 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5735150 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5926793 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5961843 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5999811 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6005183 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6122616 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6138648 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6291271 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6337394 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6430160 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6445281 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6487140 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6519950 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv6556231 | Remapped | Perfect | NC_000010.11:g.(12 9964381_129964752) _(129973658_129974 028)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 129,964,381 | 129,964,752 | 129,973,658 | 129,974,028 |
| essv5428625 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5430581 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5465375 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5525786 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5647538 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5681735 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5735150 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5926793 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5961843 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv5999811 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6005183 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6122616 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6138648 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6291271 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6337394 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6430160 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6445281 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6487140 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6519950 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 | ||
| essv6556231 | Submitted genomic | NC_000010.10:g.(13 1762645_131763016) _(131771922_131772 292)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,762,645 | 131,763,016 | 131,771,922 | 131,772,292 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5926793 | 9 | SAMN00001102 | Oligo aCGH | Probe signal intensity | Fail |
| essv5735150 | 9 | SAMN00001106 | Oligo aCGH | Probe signal intensity | Fail |
| essv6519950 | 9 | SAMN00001118 | Oligo aCGH | Probe signal intensity | Fail |
| essv5525786 | 9 | SAMN00001120 | Oligo aCGH | Probe signal intensity | Fail |
| essv6005183 | 9 | SAMN00001121 | Oligo aCGH | Probe signal intensity | Fail |
| essv6337394 | 9 | SAMN00001129 | Oligo aCGH | Probe signal intensity | Fail |
| essv6445281 | 9 | SAMN00001159 | Oligo aCGH | Probe signal intensity | Fail |
| essv6556231 | 9 | SAMN00001160 | Oligo aCGH | Probe signal intensity | Fail |
| essv5961843 | 9 | SAMN00001162 | Oligo aCGH | Probe signal intensity | Fail |
| essv6138648 | 9 | SAMN00001164 | Oligo aCGH | Probe signal intensity | Fail |
| essv6291271 | 9 | SAMN00001165 | Oligo aCGH | Probe signal intensity | Fail |
| essv5430581 | 9 | SAMN00001166 | Oligo aCGH | Probe signal intensity | Fail |
| essv6487140 | 9 | SAMN00001168 | Oligo aCGH | Probe signal intensity | Fail |
| essv5681735 | 9 | SAMN00001170 | Oligo aCGH | Probe signal intensity | Fail |
| essv6430160 | 9 | SAMN00001173 | Oligo aCGH | Probe signal intensity | Fail |
| essv5465375 | 9 | SAMN00001174 | Oligo aCGH | Probe signal intensity | Fail |
| essv5999811 | 9 | SAMN00001181 | Oligo aCGH | Probe signal intensity | Fail |
| essv5647538 | 9 | SAMN00001182 | Oligo aCGH | Probe signal intensity | Fail |
| essv6122616 | 9 | SAMN00001188 | Oligo aCGH | Probe signal intensity | Fail |
| essv5428625 | 9 | SAMN00001194 | Oligo aCGH | Probe signal intensity | Fail |
| essv5926793 | 7 | SAMN00001102 | SNP array | Probe signal intensity | Pass |
| essv5735150 | 7 | SAMN00001106 | SNP array | Probe signal intensity | Pass |
| essv6519950 | 7 | SAMN00001118 | SNP array | Probe signal intensity | Pass |
| essv5525786 | 7 | SAMN00001120 | SNP array | Probe signal intensity | Pass |
| essv6005183 | 7 | SAMN00001121 | SNP array | Probe signal intensity | Pass |
| essv6337394 | 7 | SAMN00001129 | SNP array | Probe signal intensity | Pass |
| essv6445281 | 7 | SAMN00001159 | SNP array | Probe signal intensity | Pass |
| essv6556231 | 7 | SAMN00001160 | SNP array | Probe signal intensity | Pass |
| essv5961843 | 7 | SAMN00001162 | SNP array | Probe signal intensity | Pass |
| essv6138648 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
| essv6291271 | 7 | SAMN00001165 | SNP array | Probe signal intensity | Pass |
| essv5430581 | 7 | SAMN00001166 | SNP array | Probe signal intensity | Pass |
| essv6487140 | 7 | SAMN00001168 | SNP array | Probe signal intensity | Pass |
| essv5681735 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
| essv6430160 | 7 | SAMN00001173 | SNP array | Probe signal intensity | Pass |
| essv5465375 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
| essv5999811 | 7 | SAMN00001181 | SNP array | Probe signal intensity | Pass |
| essv5647538 | 7 | SAMN00001182 | SNP array | Probe signal intensity | Pass |
| essv6122616 | 7 | SAMN00001188 | SNP array | Probe signal intensity | Pass |
| essv5428625 | 7 | SAMN00001194 | SNP array | Probe signal intensity | Pass |