esv2675745
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,998
- 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: 616 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 614 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2675745 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| esv2675745 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| esv2675745 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5465154 | deletion | SAMN00007714 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,155 |
| essv5472361 | deletion | SAMN00007722 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,201 |
| essv5619460 | deletion | SAMN00007759 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 815 |
| essv5869995 | deletion | SAMN00007725 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,143 |
| essv5940858 | deletion | SAMN00007756 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,140 |
| essv6297214 | deletion | SAMN00007708 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,132 |
| essv6369839 | deletion | SAMN00007732 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,164 |
| essv6528618 | deletion | SAMN00007726 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,102 |
| essv6559146 | deletion | SAMN00007729 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,132 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5465154 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv5472361 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv5619460 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv5869995 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv5940858 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv6297214 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv6369839 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv6528618 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv6559146 | Remapped | Perfect | NW_003315968.2:g.( 186504_186875)_(19 9131_199501)del | GRCh38.p12 | Second Pass | NW_003315968.2 | Chr21|NW_0 03315968.2 | 186,504 | 186,875 | 199,131 | 199,501 |
| essv5465154 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv5472361 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv5619460 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv5869995 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv5940858 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv6297214 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv6369839 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv6528618 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv6559146 | Remapped | Perfect | NC_000021.9:g.(222 82275_22282646)_(2 2294902_22295272)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,282,275 | 22,282,646 | 22,294,902 | 22,295,272 |
| essv5465154 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv5472361 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv5619460 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv5869995 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv5940858 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv6297214 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv6369839 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv6528618 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 | ||
| essv6559146 | Submitted genomic | NC_000021.8:g.(236 54595_23654966)_(2 3667222_23667592)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,654,595 | 23,654,966 | 23,667,222 | 23,667,592 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6297214 | 7 | SAMN00007708 | SNP array | Probe signal intensity | Pass |
| essv5465154 | 7 | SAMN00007714 | SNP array | Probe signal intensity | Pass |
| essv5472361 | 7 | SAMN00007722 | SNP array | Probe signal intensity | Pass |
| essv5869995 | 7 | SAMN00007725 | SNP array | Probe signal intensity | Pass |
| essv6528618 | 7 | SAMN00007726 | SNP array | Probe signal intensity | Pass |
| essv6559146 | 7 | SAMN00007729 | SNP array | Probe signal intensity | Pass |
| essv6369839 | 7 | SAMN00007732 | SNP array | Probe signal intensity | Pass |
| essv5940858 | 7 | SAMN00007756 | SNP array | Probe signal intensity | Pass |
| essv5619460 | 7 | SAMN00007759 | SNP array | Probe signal intensity | Pass |