esv34666
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:385,455
- Description:Sample level SV from stringent call set
- Publication(s):Pinto et al. 2007
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: 1620 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1620 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv34666 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 34,221,944 | 34,607,398 |
| esv34666 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 34,374,879 | 34,760,333 |
| esv34666 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 34,266,146 | 34,651,600 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6978443 | copy number gain | NA19100 | SNP array | SNP genotyping analysis | 26 |
| essv6986617 | copy number gain | NA19100 | SNP array | SNP genotyping analysis | 26 |
| essv6978444 | copy number gain | NA19100 | SNP array | SNP genotyping analysis | 26 |
| essv6986618 | copy number gain | NA19100 | SNP array | SNP genotyping analysis | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6978443 | Remapped | Perfect | NC_000012.12:g.(?_ 34221944)_(3460739 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,221,944 | 34,607,396 |
| essv6986617 | Remapped | Perfect | NC_000012.12:g.(?_ 34227415)_(3460664 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,227,415 | 34,606,648 |
| essv6978444 | Remapped | Perfect | NC_000012.12:g.(?_ 34230598)_(3460739 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,230,598 | 34,607,398 |
| essv6986618 | Remapped | Perfect | NC_000012.12:g.(?_ 34275898)_(3460659 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,275,898 | 34,606,598 |
| essv6978443 | Remapped | Perfect | NC_000012.11:g.(?_ 34374879)_(3476033 1_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,374,879 | 34,760,331 |
| essv6986617 | Remapped | Perfect | NC_000012.11:g.(?_ 34380350)_(3475958 3_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,380,350 | 34,759,583 |
| essv6978444 | Remapped | Perfect | NC_000012.11:g.(?_ 34383533)_(3476033 3_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,383,533 | 34,760,333 |
| essv6986618 | Remapped | Perfect | NC_000012.11:g.(?_ 34428833)_(3475953 3_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,428,833 | 34,759,533 |
| essv6978443 | Submitted genomic | NC_000012.9:g.(?_3 4266146)_(34651598 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 34,266,146 | 34,651,598 | ||
| essv6986617 | Submitted genomic | NC_000012.9:g.(?_3 4271617)_(34650850 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 34,271,617 | 34,650,850 | ||
| essv6978444 | Submitted genomic | NC_000012.9:g.(?_3 4274800)_(34651600 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 34,274,800 | 34,651,600 | ||
| essv6986618 | Submitted genomic | NC_000012.9:g.(?_3 4320100)_(34650800 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 34,320,100 | 34,650,800 |