esv2322180
- Organism: Homo sapiens
- Study:estd194 (Bentley et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,917
- Publication(s):Bentley et al. 2008
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: 185 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 12 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2322180 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 28,796,898 | 28,796,978 | 28,812,760 | 28,812,801 |
esv2322180 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 62,467 | 62,467 | 78,368 | 78,368 |
esv2322180 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 62,491 | 62,571 | 78,353 | 78,394 |
esv2322180 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 62,487 | 62,487 | 78,403 | 78,403 |
esv2322180 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 62,477 | 62,477 | 78,380 | 78,380 |
esv2322180 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 28,764,675 | 28,764,755 | 28,780,537 | 28,780,578 |
esv2322180 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 68,072 | 68,072 | 83,988 | 83,988 |
esv2322180 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_6 | Second Pass | NT_167248.1 | Chr6|NT_16 7248.1 | 68,076 | 68,156 | 83,938 | 83,979 |
esv2322180 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 68,076 | 68,156 | 83,938 | 83,979 |
esv2322180 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_1 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 68,076 | 68,156 | 83,938 | 83,979 |
esv2322180 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 28,872,654 | 28,872,734 | 28,888,516 | 28,888,557 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv4530880 | Remapped | Good | NT_167246.2:g.(624 67_62467)_(78368_7 8368)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 62,467 | 62,467 | 78,368 | 78,368 |
essv4530880 | Remapped | Perfect | NT_167247.2:g.(624 91_62571)_(78353_7 8394)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 62,491 | 62,571 | 78,353 | 78,394 |
essv4530880 | Remapped | Good | NT_167245.2:g.(624 87_62487)_(78403_7 8403)del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 62,487 | 62,487 | 78,403 | 78,403 |
essv4530880 | Remapped | Perfect | NT_167244.2:g.(624 77_62477)_(78380_7 8380)del | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 62,477 | 62,477 | 78,380 | 78,380 |
essv4530880 | Remapped | Perfect | NC_000006.12:g.(28 796898_28796978)_( 28812760_28812801) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 28,796,898 | 28,796,978 | 28,812,760 | 28,812,801 |
essv4530880 | Remapped | Good | NT_167245.1:g.(680 72_68072)_(83988_8 3988)delNT_167245. 1:g.(68072_68072)_ (83988_83988)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 68,072 | 68,072 | 83,988 | 83,988 |
essv4530880 | Remapped | Perfect | NT_167244.1:g.(680 76_68156)_(83938_8 3979)del | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 68,076 | 68,156 | 83,938 | 83,979 |
essv4530880 | Remapped | Perfect | NT_167247.1:g.(680 76_68156)_(83938_8 3979)delNT_167247. 1:g.(68076_68156)_ (83938_83979)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 68,076 | 68,156 | 83,938 | 83,979 |
essv4530880 | Remapped | Perfect | NT_167248.1:g.(680 76_68156)_(83938_8 3979)delNT_167248. 1:g.(68076_68156)_ (83938_83979)del | GRCh37.p13 | Second Pass | NT_167248.1 | Chr6|NT_16 7248.1 | 68,076 | 68,156 | 83,938 | 83,979 |
essv4530880 | Remapped | Perfect | NC_000006.11:g.(28 764675_28764755)_( 28780537_28780578) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 28,764,675 | 28,764,755 | 28,780,537 | 28,780,578 |
essv4530880 | Submitted genomic | NC_000006.10:g.(28 872654_28872734)_( 28888516_28888557) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 28,872,654 | 28,872,734 | 28,888,516 | 28,888,557 |