esv275574
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,929
- Publication(s):Banerjee et al. 2011
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: 138 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275574 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 213,209,329 | 213,212,884 | 213,219,752 | 213,220,257 |
| esv275574 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 213,382,672 | 213,386,227 | 213,393,095 | 213,393,600 |
| esv275574 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 211,449,295 | 211,452,850 | 211,459,718 | 211,460,223 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585417 | copy number loss | SNP array | Other |
| essv2585910 | copy number gain | SNP array | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585417 | Remapped | Perfect | NC_000001.11:g.(21 3209329_213212884) _(213219752_213220 257)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 213,209,329 | 213,212,884 | 213,219,752 | 213,220,257 |
| essv2585910 | Remapped | Perfect | NC_000001.11:g.(21 3209329_213212884) _(213219752_213220 257)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 213,209,329 | 213,212,884 | 213,219,752 | 213,220,257 |
| essv2585417 | Remapped | Perfect | NC_000001.10:g.(21 3382672_213386227) _(213393095_213393 600)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,382,672 | 213,386,227 | 213,393,095 | 213,393,600 |
| essv2585910 | Remapped | Perfect | NC_000001.10:g.(21 3382672_213386227) _(213393095_213393 600)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,382,672 | 213,386,227 | 213,393,095 | 213,393,600 |
| essv2585417 | Submitted genomic | NC_000001.9:g.(211 449295_211452850)_ (211459718_2114602 23)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 211,449,295 | 211,452,850 | 211,459,718 | 211,460,223 | ||
| essv2585910 | Submitted genomic | NC_000001.9:g.(211 449295_211452850)_ (211459718_2114602 23)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 211,449,295 | 211,452,850 | 211,459,718 | 211,460,223 |