esv2750961
- 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:284,301
- 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: 834 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 840 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2750961 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 51,966,534 | 52,250,834 |
| esv2750961 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 53,726,294 | 54,010,594 |
| esv2750961 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 53,396,300 | 53,680,600 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6982572 | copy number gain | BEC_568 | SNP array | SNP genotyping analysis | 25 |
| essv6982573 | copy number gain | BEC_568 | SNP array | SNP genotyping analysis | 25 |
| essv6982574 | copy number gain | BEC_568 | SNP array | SNP genotyping analysis | 25 |
| essv6982575 | copy number gain | BEC_568 | SNP array | SNP genotyping analysis | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6982572 | Remapped | Perfect | NC_000010.11:g.(?_ 51966534)_(5225083 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 51,966,534 | 52,250,834 |
| essv6982573 | Remapped | Perfect | NC_000010.11:g.(?_ 52056334)_(5222733 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 52,056,334 | 52,227,334 |
| essv6982574 | Remapped | Perfect | NC_000010.11:g.(?_ 52072450)_(5222732 0_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 52,072,450 | 52,227,320 |
| essv6982575 | Remapped | Perfect | NC_000010.11:g.(?_ 52072450)_(5222765 7_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 52,072,450 | 52,227,657 |
| essv6982572 | Remapped | Perfect | NC_000010.10:g.(?_ 53726294)_(5401059 4_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 53,726,294 | 54,010,594 |
| essv6982573 | Remapped | Perfect | NC_000010.10:g.(?_ 53816094)_(5398709 4_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 53,816,094 | 53,987,094 |
| essv6982574 | Remapped | Perfect | NC_000010.10:g.(?_ 53832210)_(5398708 0_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 53,832,210 | 53,987,080 |
| essv6982575 | Remapped | Perfect | NC_000010.10:g.(?_ 53832210)_(5398741 7_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 53,832,210 | 53,987,417 |
| essv6982572 | Submitted genomic | NC_000010.8:g.(?_5 3396300)_(53680600 _?)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 53,396,300 | 53,680,600 | ||
| essv6982573 | Submitted genomic | NC_000010.8:g.(?_5 3486100)_(53657100 _?)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 53,486,100 | 53,657,100 | ||
| essv6982574 | Submitted genomic | NC_000010.8:g.(?_5 3502216)_(53657086 _?)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 53,502,216 | 53,657,086 | ||
| essv6982575 | Submitted genomic | NC_000010.8:g.(?_5 3502216)_(53657423 _?)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 53,502,216 | 53,657,423 |