esv3455536
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,707
- 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: 216 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3455536 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| esv3455536 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| esv3455536 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8247621 | deletion | SAMN00001614 | Sequencing | Paired-end mapping | 10,121 |
| essv8247622 | deletion | SAMN00797154 | Sequencing | Paired-end mapping | 12,042 |
| essv8247623 | deletion | SAMN00001600 | Sequencing | Paired-end mapping | 15,861 |
| essv8247624 | deletion | SAMN00001615 | Sequencing | Paired-end mapping | 9,351 |
| essv8247625 | deletion | SAMN00001603 | Sequencing | Paired-end mapping | 13,918 |
| essv8247626 | deletion | SAMN00001611 | Sequencing | Paired-end mapping | 14,683 |
| essv8247627 | deletion | SAMN00001604 | Sequencing | Paired-end mapping | 13,004 |
| essv8247628 | deletion | SAMN00001525 | Sequencing | Paired-end mapping | 19,957 |
| essv8247629 | deletion | SAMN00001578 | Sequencing | Paired-end mapping | 9,621 |
| essv8247630 | deletion | SAMN00800258 | Sequencing | Paired-end mapping | 12,098 |
| essv8247632 | deletion | SAMN00801103 | Sequencing | Paired-end mapping | 9,141 |
| essv8247633 | deletion | SAMN00800947 | Sequencing | Paired-end mapping | 10,286 |
| essv8247634 | deletion | SAMN00001529 | Sequencing | Paired-end mapping | 15,109 |
| essv8247635 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 12,092 |
| essv8247636 | deletion | SAMN00801027 | Sequencing | Paired-end mapping | 12,816 |
| essv8247637 | deletion | SAMN00001620 | Sequencing | Paired-end mapping | 9,873 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8247621 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247622 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247623 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247624 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247625 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247626 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247627 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247628 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247629 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247630 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247632 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247633 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247634 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247635 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247636 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247637 | Remapped | Perfect | NC_000021.9:g.(104 03833_10404043)_(1 0415562_10415782)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,403,969 (-136, +74) | 10,415,675 (-113, +107) |
| essv8247621 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247622 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247623 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247624 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247625 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247626 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247627 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247628 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247629 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247630 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247632 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247633 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247634 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247635 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247636 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247637 | Remapped | Perfect | NC_000021.8:g.(110 96646_11096856)_(1 1108375_11108595)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,782 (-136, +74) | 11,108,488 (-113, +107) |
| essv8247621 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247622 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247623 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247624 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247625 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247626 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247627 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247628 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247629 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247630 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247632 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247633 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247634 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247635 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247636 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) | ||
| essv8247637 | Submitted genomic | NC_000021.7:g.(101 18517_10118727)_(1 0130246_10130466)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,118,653 (-136, +74) | 10,130,359 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8247628 | 36 | SAMN00001525 | Digital array | Other | Fail |
| essv8247634 | 36 | SAMN00001529 | Digital array | Other | Fail |
| essv8247629 | 36 | SAMN00001578 | Digital array | Other | Fail |
| essv8247635 | 36 | SAMN00001583 | Digital array | Other | Fail |
| essv8247623 | 36 | SAMN00001600 | Digital array | Other | Fail |
| essv8247625 | 36 | SAMN00001603 | Digital array | Other | Fail |
| essv8247627 | 36 | SAMN00001604 | Digital array | Other | Fail |
| essv8247626 | 36 | SAMN00001611 | Digital array | Other | Fail |
| essv8247621 | 36 | SAMN00001614 | Digital array | Other | Fail |
| essv8247624 | 36 | SAMN00001615 | Digital array | Other | Fail |
| essv8247637 | 36 | SAMN00001620 | Digital array | Other | Fail |
| essv8247622 | 36 | SAMN00797154 | Digital array | Other | Fail |
| essv8247630 | 36 | SAMN00800258 | Digital array | Other | Fail |
| essv8247633 | 36 | SAMN00800947 | Digital array | Other | Fail |
| essv8247636 | 36 | SAMN00801027 | Digital array | Other | Fail |
| essv8247632 | 36 | SAMN00801103 | Digital array | Other | Fail |
| essv8247628 | 38 | SAMN00001525 | Digital array | Other | Pass |
| essv8247634 | 38 | SAMN00001529 | Digital array | Other | Pass |
| essv8247629 | 38 | SAMN00001578 | Digital array | Other | Pass |
| essv8247635 | 38 | SAMN00001583 | Digital array | Other | Pass |
| essv8247623 | 38 | SAMN00001600 | Digital array | Other | Pass |
| essv8247625 | 38 | SAMN00001603 | Digital array | Other | Pass |
| essv8247627 | 38 | SAMN00001604 | Digital array | Other | Pass |
| essv8247626 | 38 | SAMN00001611 | Digital array | Other | Pass |
| essv8247621 | 38 | SAMN00001614 | Digital array | Other | Pass |
| essv8247624 | 38 | SAMN00001615 | Digital array | Other | Pass |
| essv8247637 | 38 | SAMN00001620 | Digital array | Other | Pass |
| essv8247622 | 38 | SAMN00797154 | Digital array | Other | Pass |
| essv8247630 | 38 | SAMN00800258 | Digital array | Other | Pass |
| essv8247633 | 38 | SAMN00800947 | Digital array | Other | Pass |
| essv8247636 | 38 | SAMN00801027 | Digital array | Other | Pass |
| essv8247632 | 38 | SAMN00801103 | Digital array | Other | Pass |