esv2677090
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:28
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,048
- 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: 894 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 897 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2677090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| esv2677090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5481989 | deletion | SAMN00001276 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 789 |
| essv5529116 | deletion | SAMN00001259 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 840 |
| essv5596156 | deletion | SAMN00001246 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 935 |
| essv5604560 | deletion | SAMN00001229 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 868 |
| essv5620271 | deletion | SAMN00001308 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 764 |
| essv5684686 | deletion | SAMN00001263 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 864 |
| essv5701270 | deletion | SAMN00001267 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,060 |
| essv5735476 | deletion | SAMN00001275 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 849 |
| essv5767118 | deletion | SAMN00001295 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 922 |
| essv5844535 | deletion | SAMN00001227 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,193 |
| essv5912573 | deletion | SAMN00001300 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 738 |
| essv5989738 | deletion | SAMN00001289 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 848 |
| essv6003052 | deletion | SAMN00001320 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 842 |
| essv6072082 | deletion | SAMN00001270 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 783 |
| essv6118720 | deletion | SAMN00001319 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 768 |
| essv6139635 | deletion | SAMN00001260 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 945 |
| essv6150492 | deletion | SAMN00001287 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 874 |
| essv6186925 | deletion | SAMN00001322 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 893 |
| essv6238921 | deletion | SAMN00001262 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 901 |
| essv6367839 | deletion | SAMN00001288 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 897 |
| essv6391102 | deletion | SAMN00001279 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 811 |
| essv6396696 | deletion | SAMN00001291 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 709 |
| essv6413174 | deletion | SAMN00001307 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 922 |
| essv6425920 | deletion | SAMN00001223 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 962 |
| essv6437612 | deletion | SAMN00001224 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 891 |
| essv6438029 | deletion | SAMN00001305 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 955 |
| essv6497286 | deletion | SAMN00001323 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 757 |
| essv6522224 | deletion | SAMN00001255 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 876 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5481989 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5529116 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5596156 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5604560 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5620271 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5684686 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5701270 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5735476 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5767118 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5844535 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5912573 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5989738 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6003052 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6072082 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6118720 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6139635 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6150492 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6186925 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6238921 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6367839 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6391102 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6396696 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6413174 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6425920 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6437612 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6438029 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6497286 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv6522224 | Remapped | Perfect | NC_000009.12:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
| essv5481989 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5529116 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5596156 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5604560 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5620271 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5684686 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5701270 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5735476 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5767118 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5844535 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5912573 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv5989738 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6003052 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6072082 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6118720 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6139635 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6150492 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6186925 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6238921 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6367839 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6391102 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6396696 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6413174 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6425920 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6437612 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6438029 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6497286 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 | ||
| essv6522224 | Submitted genomic | NC_000009.11:g.(67 01595_6701966)_(67 11272_6711642)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,701,595 | 6,701,966 | 6,711,272 | 6,711,642 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6425920 | 7 | SAMN00001223 | SNP array | Probe signal intensity | Pass |
| essv6437612 | 7 | SAMN00001224 | SNP array | Probe signal intensity | Pass |
| essv5844535 | 7 | SAMN00001227 | SNP array | Probe signal intensity | Pass |
| essv5604560 | 7 | SAMN00001229 | SNP array | Probe signal intensity | Pass |
| essv5596156 | 7 | SAMN00001246 | SNP array | Probe signal intensity | Pass |
| essv6522224 | 7 | SAMN00001255 | SNP array | Probe signal intensity | Pass |
| essv5529116 | 7 | SAMN00001259 | SNP array | Probe signal intensity | Pass |
| essv6139635 | 7 | SAMN00001260 | SNP array | Probe signal intensity | Pass |
| essv6238921 | 7 | SAMN00001262 | SNP array | Probe signal intensity | Pass |
| essv5684686 | 7 | SAMN00001263 | SNP array | Probe signal intensity | Pass |
| essv5701270 | 7 | SAMN00001267 | SNP array | Probe signal intensity | Pass |
| essv6072082 | 7 | SAMN00001270 | SNP array | Probe signal intensity | Pass |
| essv5735476 | 7 | SAMN00001275 | SNP array | Probe signal intensity | Pass |
| essv5481989 | 7 | SAMN00001276 | SNP array | Probe signal intensity | Pass |
| essv6391102 | 7 | SAMN00001279 | SNP array | Probe signal intensity | Pass |
| essv6150492 | 7 | SAMN00001287 | SNP array | Probe signal intensity | Pass |
| essv6367839 | 7 | SAMN00001288 | SNP array | Probe signal intensity | Pass |
| essv5989738 | 7 | SAMN00001289 | SNP array | Probe signal intensity | Pass |
| essv6396696 | 7 | SAMN00001291 | SNP array | Probe signal intensity | Pass |
| essv5767118 | 7 | SAMN00001295 | SNP array | Probe signal intensity | Pass |
| essv5912573 | 7 | SAMN00001300 | SNP array | Probe signal intensity | Pass |
| essv6438029 | 7 | SAMN00001305 | SNP array | Probe signal intensity | Pass |
| essv6413174 | 7 | SAMN00001307 | SNP array | Probe signal intensity | Pass |
| essv5620271 | 7 | SAMN00001308 | SNP array | Probe signal intensity | Pass |
| essv6118720 | 7 | SAMN00001319 | SNP array | Probe signal intensity | Pass |
| essv6003052 | 7 | SAMN00001320 | SNP array | Probe signal intensity | Pass |
| essv6186925 | 7 | SAMN00001322 | SNP array | Probe signal intensity | Pass |
| essv6497286 | 7 | SAMN00001323 | SNP array | Probe signal intensity | Pass |