esv2752064
- 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:229,761
- 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: 725 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 725 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2752064 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 22,469,723 | 22,699,483 |
| esv2752064 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 22,469,832 | 22,699,592 |
| esv2752064 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 22,505,589 | 22,735,349 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6985993 | copy number loss | SPC_99 | SNP array | SNP genotyping analysis | 13 |
| essv6990176 | copy number loss | SPC_99 | SNP array | SNP genotyping analysis | 13 |
| essv6985994 | copy number loss | SPC_99 | SNP array | SNP genotyping analysis | 13 |
| essv6985995 | copy number loss | SPC_99 | SNP array | SNP genotyping analysis | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6985993 | Remapped | Perfect | NC_000005.10:g.(?_ 22469723)_(2256710 5_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 22,469,723 | 22,567,105 |
| essv6990176 | Remapped | Perfect | NC_000005.10:g.(?_ 22469723)_(2269948 3_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 22,469,723 | 22,699,483 |
| essv6985994 | Remapped | Perfect | NC_000005.10:g.(?_ 22469734)_(2266043 4_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 22,469,734 | 22,660,434 |
| essv6985995 | Remapped | Perfect | NC_000005.10:g.(?_ 22580054)_(2266045 5_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 22,580,054 | 22,660,455 |
| essv6985993 | Remapped | Perfect | NC_000005.9:g.(?_2 2469832)_(22567214 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 22,469,832 | 22,567,214 |
| essv6990176 | Remapped | Perfect | NC_000005.9:g.(?_2 2469832)_(22699592 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 22,469,832 | 22,699,592 |
| essv6985994 | Remapped | Perfect | NC_000005.9:g.(?_2 2469843)_(22660543 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 22,469,843 | 22,660,543 |
| essv6985995 | Remapped | Perfect | NC_000005.9:g.(?_2 2580163)_(22660564 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 22,580,163 | 22,660,564 |
| essv6985993 | Submitted genomic | NC_000005.8:g.(?_2 2505589)_(22602971 _?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 22,505,589 | 22,602,971 | ||
| essv6990176 | Submitted genomic | NC_000005.8:g.(?_2 2505589)_(22735349 _?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 22,505,589 | 22,735,349 | ||
| essv6985994 | Submitted genomic | NC_000005.8:g.(?_2 2505600)_(22696300 _?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 22,505,600 | 22,696,300 | ||
| essv6985995 | Submitted genomic | NC_000005.8:g.(?_2 2615920)_(22696321 _?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 22,615,920 | 22,696,321 |