esv33443
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,799
- Publication(s):de Smith 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: 181 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33443 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 173,545,734 | 173,547,532 |
| esv33443 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 172,972,737 | 172,974,535 |
| esv33443 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 172,905,343 | 172,907,141 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv101608 | copy number loss | 21603 | Oligo aCGH | Probe signal intensity | 188 |
| essv94101 | copy number loss | 21802 | Oligo aCGH | Probe signal intensity | 176 |
| essv94565 | copy number loss | 21932 | Oligo aCGH | Probe signal intensity | 171 |
| essv99627 | copy number loss | 22217 | Oligo aCGH | Probe signal intensity | 182 |
| essv95004 | copy number loss | 22231 | Oligo aCGH | Probe signal intensity | 206 |
| essv96156 | copy number loss | 22007 | Oligo aCGH | Probe signal intensity | 166 |
| essv98867 | copy number loss | 21606 | Oligo aCGH | Probe signal intensity | 282 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv101608 | Remapped | Perfect | NC_000005.10:g.(17 3545263_173545734) _(173547532_173548 619)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 173,545,263 | 173,545,734 | 173,547,532 | 173,548,619 |
| essv94101 | Remapped | Perfect | NC_000005.10:g.(17 3545263_173545734) _(173547532_173548 619)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 173,545,263 | 173,545,734 | 173,547,532 | 173,548,619 |
| essv94565 | Remapped | Perfect | NC_000005.10:g.(17 3545263_173545734) _(173547532_173548 619)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 173,545,263 | 173,545,734 | 173,547,532 | 173,548,619 |
| essv99627 | Remapped | Perfect | NC_000005.10:g.(17 3545263_173545734) _(173547532_173548 619)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 173,545,263 | 173,545,734 | 173,547,532 | 173,548,619 |
| essv95004 | Remapped | Perfect | NC_000005.10:g.(17 3545734_173546237) _(173547532_173548 619)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 173,545,734 | 173,546,237 | 173,547,532 | 173,548,619 |
| essv96156 | Remapped | Perfect | NC_000005.10:g.(17 3545734_173546237) _(173547532_173548 619)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 173,545,734 | 173,546,237 | 173,547,532 | 173,548,619 |
| essv98867 | Remapped | Perfect | NC_000005.10:g.(17 3545734_173546237) _(173547532_173548 619)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 173,545,734 | 173,546,237 | 173,547,532 | 173,548,619 |
| essv101608 | Remapped | Perfect | NC_000005.9:g.(172 972266_172972737)_ (172974535_1729756 22)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 172,972,266 | 172,972,737 | 172,974,535 | 172,975,622 |
| essv94101 | Remapped | Perfect | NC_000005.9:g.(172 972266_172972737)_ (172974535_1729756 22)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 172,972,266 | 172,972,737 | 172,974,535 | 172,975,622 |
| essv94565 | Remapped | Perfect | NC_000005.9:g.(172 972266_172972737)_ (172974535_1729756 22)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 172,972,266 | 172,972,737 | 172,974,535 | 172,975,622 |
| essv99627 | Remapped | Perfect | NC_000005.9:g.(172 972266_172972737)_ (172974535_1729756 22)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 172,972,266 | 172,972,737 | 172,974,535 | 172,975,622 |
| essv95004 | Remapped | Perfect | NC_000005.9:g.(172 972737_172973240)_ (172974535_1729756 22)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 172,972,737 | 172,973,240 | 172,974,535 | 172,975,622 |
| essv96156 | Remapped | Perfect | NC_000005.9:g.(172 972737_172973240)_ (172974535_1729756 22)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 172,972,737 | 172,973,240 | 172,974,535 | 172,975,622 |
| essv98867 | Remapped | Perfect | NC_000005.9:g.(172 972737_172973240)_ (172974535_1729756 22)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 172,972,737 | 172,973,240 | 172,974,535 | 172,975,622 |
| essv101608 | Submitted genomic | NC_000005.8:g.(172 904872_172905343)_ (172907141_1729082 28)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 172,904,872 | 172,905,343 | 172,907,141 | 172,908,228 | ||
| essv94101 | Submitted genomic | NC_000005.8:g.(172 904872_172905343)_ (172907141_1729082 28)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 172,904,872 | 172,905,343 | 172,907,141 | 172,908,228 | ||
| essv94565 | Submitted genomic | NC_000005.8:g.(172 904872_172905343)_ (172907141_1729082 28)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 172,904,872 | 172,905,343 | 172,907,141 | 172,908,228 | ||
| essv99627 | Submitted genomic | NC_000005.8:g.(172 904872_172905343)_ (172907141_1729082 28)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 172,904,872 | 172,905,343 | 172,907,141 | 172,908,228 | ||
| essv95004 | Submitted genomic | NC_000005.8:g.(172 905343_172905846)_ (172907141_1729082 28)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 172,905,343 | 172,905,846 | 172,907,141 | 172,908,228 | ||
| essv96156 | Submitted genomic | NC_000005.8:g.(172 905343_172905846)_ (172907141_1729082 28)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 172,905,343 | 172,905,846 | 172,907,141 | 172,908,228 | ||
| essv98867 | Submitted genomic | NC_000005.8:g.(172 905343_172905846)_ (172907141_1729082 28)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 172,905,343 | 172,905,846 | 172,907,141 | 172,908,228 |