esv2660796
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,934
- 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: 578 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 578 SVs from 81 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2660796 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
esv2660796 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5688207 | deletion | SAMN00001643 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,323 |
essv5761997 | deletion | SAMN00006550 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,705 |
essv5808146 | deletion | SAMN00006492 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,011 |
essv5839969 | deletion | SAMN00006513 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,611 |
essv5841853 | deletion | SAMN00006481 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,764 |
essv5890608 | deletion | SAMN00006561 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
essv6133898 | deletion | SAMN00006520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,720 |
essv6195526 | deletion | SAMN00000511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,272 |
essv6251525 | deletion | SAMN00000418 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
essv6413320 | deletion | SAMN00000517 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,139 |
essv6453180 | deletion | SAMN00006568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,726 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5688207 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv5761997 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv5808146 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv5839969 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv5841853 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv5890608 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv6133898 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv6195526 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv6251525 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv6413320 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv6453180 | Remapped | Perfect | NC_000002.12:g.(97 146871_97147028)_( 97159651_97159804) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,146,871 | 97,147,028 | 97,159,651 | 97,159,804 |
essv5688207 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv5761997 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv5808146 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv5839969 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv5841853 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv5890608 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv6133898 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv6195526 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv6251525 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv6413320 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 | ||
essv6453180 | Submitted genomic | NC_000002.11:g.(97 812608_97812765)_( 97825388_97825541) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,812,608 | 97,812,765 | 97,825,388 | 97,825,541 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6251525 | 9 | SAMN00000418 | Oligo aCGH | Probe signal intensity | Pass |
essv6195526 | 9 | SAMN00000511 | Oligo aCGH | Probe signal intensity | Pass |
essv6413320 | 9 | SAMN00000517 | Oligo aCGH | Probe signal intensity | Pass |
essv5688207 | 9 | SAMN00001643 | Oligo aCGH | Probe signal intensity | Pass |
essv5841853 | 9 | SAMN00006481 | Oligo aCGH | Probe signal intensity | Pass |
essv5808146 | 9 | SAMN00006492 | Oligo aCGH | Probe signal intensity | Pass |
essv5839969 | 9 | SAMN00006513 | Oligo aCGH | Probe signal intensity | Pass |
essv6133898 | 9 | SAMN00006520 | Oligo aCGH | Probe signal intensity | Pass |
essv5761997 | 9 | SAMN00006550 | Oligo aCGH | Probe signal intensity | Pass |
essv5890608 | 9 | SAMN00006561 | Oligo aCGH | Probe signal intensity | Pass |
essv6453180 | 9 | SAMN00006568 | Oligo aCGH | Probe signal intensity | Pass |
essv6251525 | 7 | SAMN00000418 | SNP array | Probe signal intensity | Pass |
essv6195526 | 7 | SAMN00000511 | SNP array | Probe signal intensity | Pass |
essv6413320 | 7 | SAMN00000517 | SNP array | Probe signal intensity | Pass |
essv5688207 | 7 | SAMN00001643 | SNP array | Probe signal intensity | Pass |
essv5841853 | 7 | SAMN00006481 | SNP array | Probe signal intensity | Pass |
essv5808146 | 7 | SAMN00006492 | SNP array | Probe signal intensity | Pass |
essv5839969 | 7 | SAMN00006513 | SNP array | Probe signal intensity | Pass |
essv6133898 | 7 | SAMN00006520 | SNP array | Probe signal intensity | Pass |
essv5761997 | 7 | SAMN00006550 | SNP array | Probe signal intensity | Pass |
essv5890608 | 7 | SAMN00006561 | SNP array | Probe signal intensity | Pass |
essv6453180 | 7 | SAMN00006568 | SNP array | Probe signal intensity | Pass |