esv3314561
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Yes
- Clinical Assertions: No
- Region Size:14,795
- 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: 276 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3314561 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| esv3314561 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| esv3314561 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8223524 | deletion | SAMN00001613 | Sequencing | Paired-end mapping | 15,037 |
| essv8223525 | deletion | SAMN00001616 | Sequencing | Paired-end mapping | 16,444 |
| essv8223526 | deletion | SAMN00001619 | Sequencing | Paired-end mapping | 14,368 |
| essv8223527 | deletion | SAMN00001635 | Sequencing | Paired-end mapping | 14,152 |
| essv8223528 | deletion | SAMN00001647 | Sequencing | Paired-end mapping | 26,594 |
| essv8223529 | deletion | SAMN00001638 | Sequencing | Paired-end mapping | 14,476 |
| essv8223531 | deletion | SAMN00001639 | Sequencing | Paired-end mapping | 14,223 |
| essv8223532 | deletion | SAMN00001600 | Sequencing | Paired-end mapping | 15,861 |
| essv8223533 | deletion | SAMN00001606 | Sequencing | Paired-end mapping | 15,404 |
| essv8223534 | deletion | SAMN00001637 | Sequencing | Paired-end mapping | 13,785 |
| essv8223535 | deletion | SAMN00001610 | Sequencing | Paired-end mapping | 15,427 |
| essv8223536 | deletion | SAMN00001648 | Sequencing | Paired-end mapping | 15,747 |
| essv8223537 | deletion | SAMN00001597 | Sequencing | Paired-end mapping | 14,192 |
| essv8223538 | deletion | SAMN00001615 | Sequencing | Paired-end mapping | 9,351 |
| essv8223539 | deletion | SAMN00001601 | Sequencing | Paired-end mapping | 14,986 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8223524 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223525 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223526 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223527 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223528 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223529 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223531 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223532 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223533 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223534 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223535 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223536 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223537 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223538 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223539 | Remapped | Perfect | NC_000017.11:g.(15 140463_15140673)_( 15155280_15155500) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,140,599 (-136, +74) | 15,155,393 (-113, +107) |
| essv8223524 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223525 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223526 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223527 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223528 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223529 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223531 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223532 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223533 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223534 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223535 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223536 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223537 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223538 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223539 | Remapped | Perfect | NC_000017.10:g.(15 043780_15043990)_( 15058597_15058817) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 15,043,916 (-136, +74) | 15,058,710 (-113, +107) |
| essv8223524 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223525 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223526 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223527 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223528 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223529 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223531 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223532 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223533 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223534 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223535 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223536 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223537 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223538 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) | ||
| essv8223539 | Submitted genomic | NC_000017.9:g.(149 84505_14984715)_(1 4999322_14999542)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 14,984,641 (-136, +74) | 14,999,435 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8223537 | 36 | SAMN00001597 | Digital array | Other | Pass |
| essv8223537 | 38 | SAMN00001597 | Digital array | Other | Pass |
| essv8223532 | 36 | SAMN00001600 | Digital array | Other | Pass |
| essv8223532 | 38 | SAMN00001600 | Digital array | Other | Pass |
| essv8223539 | 36 | SAMN00001601 | Digital array | Other | Pass |
| essv8223539 | 38 | SAMN00001601 | Digital array | Other | Pass |
| essv8223533 | 36 | SAMN00001606 | Digital array | Other | Pass |
| essv8223533 | 38 | SAMN00001606 | Digital array | Other | Pass |
| essv8223535 | 36 | SAMN00001610 | Digital array | Other | Pass |
| essv8223535 | 38 | SAMN00001610 | Digital array | Other | Pass |
| essv8223524 | 36 | SAMN00001613 | Digital array | Other | Pass |
| essv8223524 | 38 | SAMN00001613 | Digital array | Other | Pass |
| essv8223538 | 36 | SAMN00001615 | Digital array | Other | Pass |
| essv8223538 | 38 | SAMN00001615 | Digital array | Other | Pass |
| essv8223525 | 36 | SAMN00001616 | Digital array | Other | Pass |
| essv8223525 | 38 | SAMN00001616 | Digital array | Other | Pass |
| essv8223526 | 36 | SAMN00001619 | Digital array | Other | Pass |
| essv8223526 | 38 | SAMN00001619 | Digital array | Other | Pass |
| essv8223527 | 36 | SAMN00001635 | Digital array | Other | Pass |
| essv8223527 | 38 | SAMN00001635 | Digital array | Other | Pass |
| essv8223534 | 36 | SAMN00001637 | Digital array | Other | Pass |
| essv8223534 | 38 | SAMN00001637 | Digital array | Other | Pass |
| essv8223529 | 36 | SAMN00001638 | Digital array | Other | Pass |
| essv8223529 | 38 | SAMN00001638 | Digital array | Other | Pass |
| essv8223531 | 36 | SAMN00001639 | Digital array | Other | Pass |
| essv8223531 | 38 | SAMN00001639 | Digital array | Other | Pass |
| essv8223528 | 36 | SAMN00001647 | Digital array | Other | Pass |
| essv8223528 | 38 | SAMN00001647 | Digital array | Other | Pass |
| essv8223536 | 36 | SAMN00001648 | Digital array | Other | Pass |
| essv8223536 | 38 | SAMN00001648 | Digital array | Other | Pass |
| essv8223537 | 37 | SAMN00001597 | Sequencing | de novo sequence assembly | Pass |
| essv8223532 | 37 | SAMN00001600 | Sequencing | de novo sequence assembly | Pass |
| essv8223539 | 37 | SAMN00001601 | Sequencing | de novo sequence assembly | Pass |
| essv8223533 | 37 | SAMN00001606 | Sequencing | de novo sequence assembly | Pass |
| essv8223535 | 37 | SAMN00001610 | Sequencing | de novo sequence assembly | Pass |
| essv8223524 | 37 | SAMN00001613 | Sequencing | de novo sequence assembly | Pass |
| essv8223538 | 37 | SAMN00001615 | Sequencing | de novo sequence assembly | Pass |
| essv8223525 | 37 | SAMN00001616 | Sequencing | de novo sequence assembly | Pass |
| essv8223526 | 37 | SAMN00001619 | Sequencing | de novo sequence assembly | Pass |
| essv8223527 | 37 | SAMN00001635 | Sequencing | de novo sequence assembly | Pass |
| essv8223534 | 37 | SAMN00001637 | Sequencing | de novo sequence assembly | Pass |
| essv8223529 | 37 | SAMN00001638 | Sequencing | de novo sequence assembly | Pass |
| essv8223531 | 37 | SAMN00001639 | Sequencing | de novo sequence assembly | Pass |
| essv8223528 | 37 | SAMN00001647 | Sequencing | de novo sequence assembly | Pass |
| essv8223536 | 37 | SAMN00001648 | Sequencing | de novo sequence assembly | Pass |