esv3319693
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,235
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 149 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3319693 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| esv3319693 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| esv3319693 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8980607 | deletion | SAMN00001584 | Sequencing | Paired-end mapping | 11,452 |
| essv8980608 | deletion | SAMN00001579 | Sequencing | Paired-end mapping | 10,322 |
| essv8980609 | deletion | SAMN00001580 | Sequencing | Paired-end mapping | 12,837 |
| essv8980610 | deletion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
| essv8980611 | deletion | SAMN00001631 | Sequencing | Paired-end mapping | 9,100 |
| essv8980612 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 12,092 |
| essv8980613 | deletion | SAMN00001581 | Sequencing | Paired-end mapping | 12,254 |
| essv8980615 | deletion | SAMN00001585 | Sequencing | Paired-end mapping | 11,247 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8980607 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980608 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980609 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980610 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980611 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980612 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980613 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980615 | Remapped | Perfect | NC_000001.11:g.(10 309323_10309503)_( 10318545_10318739) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,309,417 (-94, +86) | 10,318,651 (-106, +88) |
| essv8980607 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980608 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980609 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980610 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980611 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980612 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980613 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980615 | Remapped | Perfect | NC_000001.10:g.(10 369381_10369561)_( 10378603_10378797) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,369,475 (-94, +86) | 10,378,709 (-106, +88) |
| essv8980607 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) | ||
| essv8980608 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) | ||
| essv8980609 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) | ||
| essv8980610 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) | ||
| essv8980611 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) | ||
| essv8980612 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) | ||
| essv8980613 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) | ||
| essv8980615 | Submitted genomic | NC_000001.9:g.(102 91968_10292148)_(1 0301190_10301384)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,292,062 (-94, +86) | 10,301,296 (-106, +88) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8980608 | 36 | SAMN00001579 | Digital array | Other | Pass |
| essv8980608 | 38 | SAMN00001579 | Digital array | Other | Pass |
| essv8980609 | 36 | SAMN00001580 | Digital array | Other | Pass |
| essv8980609 | 38 | SAMN00001580 | Digital array | Other | Pass |
| essv8980613 | 36 | SAMN00001581 | Digital array | Other | Pass |
| essv8980613 | 38 | SAMN00001581 | Digital array | Other | Pass |
| essv8980612 | 36 | SAMN00001583 | Digital array | Other | Pass |
| essv8980612 | 38 | SAMN00001583 | Digital array | Other | Pass |
| essv8980607 | 36 | SAMN00001584 | Digital array | Other | Pass |
| essv8980607 | 38 | SAMN00001584 | Digital array | Other | Pass |
| essv8980615 | 36 | SAMN00001585 | Digital array | Other | Pass |
| essv8980615 | 38 | SAMN00001585 | Digital array | Other | Pass |
| essv8980611 | 36 | SAMN00001631 | Digital array | Other | Pass |
| essv8980611 | 38 | SAMN00001631 | Digital array | Other | Pass |
| essv8980610 | 36 | SAMN00001694 | Digital array | Other | Pass |
| essv8980610 | 38 | SAMN00001694 | Digital array | Other | Pass |
| essv8980608 | 37 | SAMN00001579 | Sequencing | de novo sequence assembly | Pass |
| essv8980609 | 37 | SAMN00001580 | Sequencing | de novo sequence assembly | Pass |
| essv8980613 | 37 | SAMN00001581 | Sequencing | de novo sequence assembly | Pass |
| essv8980612 | 37 | SAMN00001583 | Sequencing | de novo sequence assembly | Pass |
| essv8980607 | 37 | SAMN00001584 | Sequencing | de novo sequence assembly | Pass |
| essv8980615 | 37 | SAMN00001585 | Sequencing | de novo sequence assembly | Pass |
| essv8980611 | 37 | SAMN00001631 | Sequencing | de novo sequence assembly | Pass |
| essv8980610 | 37 | SAMN00001694 | Sequencing | de novo sequence assembly | Pass |