esv3473974
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Yes
- Clinical Assertions: No
- Region Size:20,119
- 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: 814 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 814 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3473974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| esv3473974 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| esv3473974 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9586981 | deletion | SAMN00001608 | Sequencing | Read depth | 14,593 |
| essv9586982 | deletion | SAMN00797054 | Sequencing | Read depth | 11,153 |
| essv9586983 | deletion | SAMN00001647 | Sequencing | Read depth | 26,594 |
| essv9586984 | deletion | SAMN00800266 | Sequencing | Read depth | 11,909 |
| essv9586985 | deletion | SAMN00001694 | Sequencing | Read depth | 29,487 |
| essv9586986 | deletion | SAMN00001602 | Sequencing | Read depth | 14,902 |
| essv9586987 | deletion | SAMN00801031 | Sequencing | Read depth | 9,208 |
| essv9586988 | deletion | SAMN00797406 | Sequencing | Read depth | 9,724 |
| essv9586989 | deletion | SAMN00001611 | Sequencing | Read depth | 14,683 |
| essv9586990 | deletion | SAMN00001657 | Sequencing | Read depth | 7,873 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9586981 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586982 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586983 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586984 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586985 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586986 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586987 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586988 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586989 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586990 | Remapped | Perfect | NC_000011.10:g.(18 920129_18922429)_( 18941827_18944127) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,922,089 (-1960, +340) | 18,942,207 (-380, +1920) |
| essv9586981 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586982 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586983 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586984 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586985 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586986 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586987 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586988 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586989 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586990 | Remapped | Perfect | NC_000011.9:g.(189 41676_18943976)_(1 8963374_18965674)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,943,636 (-1960, +340) | 18,963,754 (-380, +1920) |
| essv9586981 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586982 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586983 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586984 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586985 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586986 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586987 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586988 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586989 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) | ||
| essv9586990 | Submitted genomic | NC_000011.8:g.(188 98252_18900552)_(1 8919950_18922250)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,900,212 (-1960, +340) | 18,920,330 (-380, +1920) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9586986 | 36 | SAMN00001602 | Digital array | Other | Pass |
| essv9586986 | 38 | SAMN00001602 | Digital array | Other | Pass |
| essv9586981 | 36 | SAMN00001608 | Digital array | Other | Pass |
| essv9586981 | 38 | SAMN00001608 | Digital array | Other | Pass |
| essv9586989 | 36 | SAMN00001611 | Digital array | Other | Pass |
| essv9586989 | 38 | SAMN00001611 | Digital array | Other | Pass |
| essv9586983 | 36 | SAMN00001647 | Digital array | Other | Pass |
| essv9586983 | 38 | SAMN00001647 | Digital array | Other | Pass |
| essv9586990 | 36 | SAMN00001657 | Digital array | Other | Pass |
| essv9586990 | 38 | SAMN00001657 | Digital array | Other | Pass |
| essv9586985 | 36 | SAMN00001694 | Digital array | Other | Pass |
| essv9586985 | 38 | SAMN00001694 | Digital array | Other | Pass |
| essv9586982 | 36 | SAMN00797054 | Digital array | Other | Pass |
| essv9586982 | 38 | SAMN00797054 | Digital array | Other | Pass |
| essv9586988 | 36 | SAMN00797406 | Digital array | Other | Pass |
| essv9586988 | 38 | SAMN00797406 | Digital array | Other | Pass |
| essv9586984 | 36 | SAMN00800266 | Digital array | Other | Pass |
| essv9586984 | 38 | SAMN00800266 | Digital array | Other | Pass |
| essv9586987 | 36 | SAMN00801031 | Digital array | Other | Pass |
| essv9586987 | 38 | SAMN00801031 | Digital array | Other | Pass |