esv3313014
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,571
- 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: 173 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3313014 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| esv3313014 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| esv3313014 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8876302 | deletion | SAMN00001632 | Sequencing | Paired-end mapping | 10,836 |
| essv8876304 | deletion | SAMN00001666 | Sequencing | Paired-end mapping | 11,359 |
| essv8876305 | deletion | SAMN00001627 | Sequencing | Paired-end mapping | 11,565 |
| essv8876306 | deletion | SAMN00001674 | Sequencing | Paired-end mapping | 10,842 |
| essv8876307 | deletion | SAMN00001631 | Sequencing | Paired-end mapping | 9,100 |
| essv8876308 | deletion | SAMN00001684 | Sequencing | Paired-end mapping | 9,989 |
| essv8876309 | deletion | SAMN00001628 | Sequencing | Paired-end mapping | 11,296 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8876302 | Remapped | Perfect | NC_000016.10:g.(76 627540_76627663)_( 76637110_76637219) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| essv8876304 | Remapped | Perfect | NC_000016.10:g.(76 627540_76627663)_( 76637110_76637219) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| essv8876305 | Remapped | Perfect | NC_000016.10:g.(76 627540_76627663)_( 76637110_76637219) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| essv8876306 | Remapped | Perfect | NC_000016.10:g.(76 627540_76627663)_( 76637110_76637219) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| essv8876307 | Remapped | Perfect | NC_000016.10:g.(76 627540_76627663)_( 76637110_76637219) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| essv8876308 | Remapped | Perfect | NC_000016.10:g.(76 627540_76627663)_( 76637110_76637219) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| essv8876309 | Remapped | Perfect | NC_000016.10:g.(76 627540_76627663)_( 76637110_76637219) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,612 (-72, +51) | 76,637,182 (-72, +37) |
| essv8876302 | Remapped | Perfect | NC_000016.9:g.(766 61437_76661560)_(7 6671007_76671116)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| essv8876304 | Remapped | Perfect | NC_000016.9:g.(766 61437_76661560)_(7 6671007_76671116)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| essv8876305 | Remapped | Perfect | NC_000016.9:g.(766 61437_76661560)_(7 6671007_76671116)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| essv8876306 | Remapped | Perfect | NC_000016.9:g.(766 61437_76661560)_(7 6671007_76671116)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| essv8876307 | Remapped | Perfect | NC_000016.9:g.(766 61437_76661560)_(7 6671007_76671116)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| essv8876308 | Remapped | Perfect | NC_000016.9:g.(766 61437_76661560)_(7 6671007_76671116)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| essv8876309 | Remapped | Perfect | NC_000016.9:g.(766 61437_76661560)_(7 6671007_76671116)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,509 (-72, +51) | 76,671,079 (-72, +37) |
| essv8876302 | Submitted genomic | NC_000016.8:g.(752 18938_75219061)_(7 5228508_75228617)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) | ||
| essv8876304 | Submitted genomic | NC_000016.8:g.(752 18938_75219061)_(7 5228508_75228617)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) | ||
| essv8876305 | Submitted genomic | NC_000016.8:g.(752 18938_75219061)_(7 5228508_75228617)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) | ||
| essv8876306 | Submitted genomic | NC_000016.8:g.(752 18938_75219061)_(7 5228508_75228617)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) | ||
| essv8876307 | Submitted genomic | NC_000016.8:g.(752 18938_75219061)_(7 5228508_75228617)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) | ||
| essv8876308 | Submitted genomic | NC_000016.8:g.(752 18938_75219061)_(7 5228508_75228617)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) | ||
| essv8876309 | Submitted genomic | NC_000016.8:g.(752 18938_75219061)_(7 5228508_75228617)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,010 (-72, +51) | 75,228,580 (-72, +37) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8876305 | 36 | SAMN00001627 | Digital array | Other | Pass |
| essv8876305 | 38 | SAMN00001627 | Digital array | Other | Pass |
| essv8876309 | 36 | SAMN00001628 | Digital array | Other | Pass |
| essv8876309 | 38 | SAMN00001628 | Digital array | Other | Pass |
| essv8876307 | 36 | SAMN00001631 | Digital array | Other | Pass |
| essv8876307 | 38 | SAMN00001631 | Digital array | Other | Pass |
| essv8876302 | 36 | SAMN00001632 | Digital array | Other | Pass |
| essv8876302 | 38 | SAMN00001632 | Digital array | Other | Pass |
| essv8876304 | 36 | SAMN00001666 | Digital array | Other | Pass |
| essv8876304 | 38 | SAMN00001666 | Digital array | Other | Pass |
| essv8876306 | 36 | SAMN00001674 | Digital array | Other | Pass |
| essv8876306 | 38 | SAMN00001674 | Digital array | Other | Pass |
| essv8876308 | 36 | SAMN00001684 | Digital array | Other | Pass |
| essv8876308 | 38 | SAMN00001684 | Digital array | Other | Pass |
| essv8876305 | 37 | SAMN00001627 | Sequencing | de novo sequence assembly | Pass |
| essv8876309 | 37 | SAMN00001628 | Sequencing | de novo sequence assembly | Pass |
| essv8876307 | 37 | SAMN00001631 | Sequencing | de novo sequence assembly | Pass |
| essv8876302 | 37 | SAMN00001632 | Sequencing | de novo sequence assembly | Pass |
| essv8876304 | 37 | SAMN00001666 | Sequencing | de novo sequence assembly | Pass |
| essv8876306 | 37 | SAMN00001674 | Sequencing | de novo sequence assembly | Pass |
| essv8876308 | 37 | SAMN00001684 | Sequencing | de novo sequence assembly | Pass |