esv3313017
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,578
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3313017 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| esv3313017 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| esv3313017 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9246318 | deletion | SAMN00001631 | Sequencing | Paired-end mapping | 9,100 |
| essv9246319 | deletion | SAMN00001627 | Sequencing | Paired-end mapping | 11,565 |
| essv9246320 | deletion | SAMN00001628 | Sequencing | Paired-end mapping | 11,296 |
| essv9246321 | deletion | SAMN00001632 | Sequencing | Paired-end mapping | 10,836 |
| essv9246322 | deletion | SAMN00001585 | Sequencing | Paired-end mapping | 11,247 |
| essv9246323 | deletion | SAMN00001666 | Sequencing | Paired-end mapping | 11,359 |
| essv9246325 | deletion | SAMN00001674 | Sequencing | Paired-end mapping | 10,842 |
| essv9246326 | deletion | SAMN00001684 | Sequencing | Paired-end mapping | 9,989 |
| essv9246327 | deletion | SAMN00001672 | Sequencing | Paired-end mapping | 4,244 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9246318 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246319 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246320 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246321 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246322 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246323 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246325 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246326 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246327 | Remapped | Perfect | NC_000016.10:g.(76 627517_76627680)_( 76637080_76637259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,627,603 (-86, +77) | 76,637,180 (-100, +79) |
| essv9246318 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246319 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246320 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246321 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246322 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246323 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246325 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246326 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246327 | Remapped | Perfect | NC_000016.9:g.(766 61414_76661577)_(7 6670977_76671156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,661,500 (-86, +77) | 76,671,077 (-100, +79) |
| essv9246318 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246319 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246320 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246321 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246322 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246323 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246325 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246326 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) | ||
| essv9246327 | Submitted genomic | NC_000016.8:g.(752 18915_75219078)_(7 5228478_75228657)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,219,001 (-86, +77) | 75,228,578 (-100, +79) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9246322 | 36 | SAMN00001585 | Digital array | Other | Pass |
| essv9246322 | 38 | SAMN00001585 | Digital array | Other | Pass |
| essv9246319 | 36 | SAMN00001627 | Digital array | Other | Pass |
| essv9246319 | 38 | SAMN00001627 | Digital array | Other | Pass |
| essv9246320 | 36 | SAMN00001628 | Digital array | Other | Pass |
| essv9246320 | 38 | SAMN00001628 | Digital array | Other | Pass |
| essv9246318 | 36 | SAMN00001631 | Digital array | Other | Pass |
| essv9246318 | 38 | SAMN00001631 | Digital array | Other | Pass |
| essv9246321 | 36 | SAMN00001632 | Digital array | Other | Pass |
| essv9246321 | 38 | SAMN00001632 | Digital array | Other | Pass |
| essv9246323 | 36 | SAMN00001666 | Digital array | Other | Pass |
| essv9246323 | 38 | SAMN00001666 | Digital array | Other | Pass |
| essv9246327 | 36 | SAMN00001672 | Digital array | Other | Pass |
| essv9246327 | 38 | SAMN00001672 | Digital array | Other | Pass |
| essv9246325 | 36 | SAMN00001674 | Digital array | Other | Pass |
| essv9246325 | 38 | SAMN00001674 | Digital array | Other | Pass |
| essv9246326 | 36 | SAMN00001684 | Digital array | Other | Pass |
| essv9246326 | 38 | SAMN00001684 | Digital array | Other | Pass |
| essv9246322 | 35 | SAMN00001585 | PCR | Other | Pass |
| essv9246319 | 35 | SAMN00001627 | PCR | Other | Pass |
| essv9246320 | 35 | SAMN00001628 | PCR | Other | Pass |
| essv9246318 | 35 | SAMN00001631 | PCR | Other | Pass |
| essv9246321 | 35 | SAMN00001632 | PCR | Other | Pass |
| essv9246323 | 35 | SAMN00001666 | PCR | Other | Pass |
| essv9246327 | 35 | SAMN00001672 | PCR | Other | Pass |
| essv9246325 | 35 | SAMN00001674 | PCR | Other | Pass |
| essv9246326 | 35 | SAMN00001684 | PCR | Other | Pass |
| essv9246322 | 37 | SAMN00001585 | Sequencing | de novo sequence assembly | Pass |
| essv9246319 | 37 | SAMN00001627 | Sequencing | de novo sequence assembly | Pass |
| essv9246320 | 37 | SAMN00001628 | Sequencing | de novo sequence assembly | Pass |
| essv9246318 | 37 | SAMN00001631 | Sequencing | de novo sequence assembly | Pass |
| essv9246321 | 37 | SAMN00001632 | Sequencing | de novo sequence assembly | Pass |
| essv9246323 | 37 | SAMN00001666 | Sequencing | de novo sequence assembly | Pass |
| essv9246327 | 37 | SAMN00001672 | Sequencing | de novo sequence assembly | Pass |
| essv9246325 | 37 | SAMN00001674 | Sequencing | de novo sequence assembly | Pass |
| essv9246326 | 37 | SAMN00001684 | Sequencing | de novo sequence assembly | Pass |