esv2668194
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,417
- 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: 258 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2668194 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| esv2668194 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5506729 | deletion | SAMN00004632 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
| essv5583847 | deletion | SAMN00800266 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,221 |
| essv5605820 | deletion | SAMN00004677 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 693 |
| essv5717629 | deletion | SAMN00001238 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 882 |
| essv5733661 | deletion | SAMN00001319 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 768 |
| essv6006513 | deletion | SAMN00006347 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,474 |
| essv6027739 | deletion | SAMN00016974 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,135 |
| essv6130586 | deletion | SAMN00001556 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,169 |
| essv6154919 | deletion | SAMN00006368 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,057 |
| essv6448434 | deletion | SAMN00007837 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 919 |
| essv6501436 | deletion | SAMN00800969 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,141 |
| essv6521682 | deletion | SAMN00009092 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5506729 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv5583847 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv5605820 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv5717629 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv5733661 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv6006513 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv6027739 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv6130586 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv6154919 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv6448434 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv6501436 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv6521682 | Remapped | Perfect | NC_000005.10:g.138 471796_138481212de lG | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,471,796 | 138,481,212 |
| essv5506729 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv5583847 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv5605820 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv5717629 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv5733661 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv6006513 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv6027739 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv6130586 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv6154919 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv6448434 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv6501436 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 | ||
| essv6521682 | Submitted genomic | NC_000005.9:g.1378 07485_137816901del G | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,807,485 | 137,816,901 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5717629 | 7 | SAMN00001238 | SNP array | Probe signal intensity | Pass |
| essv5733661 | 7 | SAMN00001319 | SNP array | Probe signal intensity | Pass |
| essv6130586 | 7 | SAMN00001556 | SNP array | Probe signal intensity | Pass |
| essv5506729 | 7 | SAMN00004632 | SNP array | Probe signal intensity | Pass |
| essv5605820 | 7 | SAMN00004677 | SNP array | Probe signal intensity | Pass |
| essv6006513 | 7 | SAMN00006347 | SNP array | Probe signal intensity | Pass |
| essv6154919 | 7 | SAMN00006368 | SNP array | Probe signal intensity | Pass |
| essv6448434 | 7 | SAMN00007837 | SNP array | Probe signal intensity | Pass |
| essv6521682 | 7 | SAMN00009092 | SNP array | Probe signal intensity | Pass |
| essv6027739 | 7 | SAMN00016974 | SNP array | Probe signal intensity | Pass |
| essv5583847 | 7 | SAMN00800266 | SNP array | Probe signal intensity | Pass |
| essv6501436 | 7 | SAMN00800969 | SNP array | Probe signal intensity | Pass |