esv2422364
- Organism: Homo sapiens
- Study:estd196 (Simon-Sanchez et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:157,440
- Publication(s):Simon-Sanchez et al. 2006
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: 752 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 448 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 433 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 524 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422364 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,575,991 | 54,733,430 |
| esv2422364 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 558,572 | 716,010 |
| esv2422364 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 363,080 | 459,453 |
| esv2422364 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 480,875 | 637,781 |
| esv2422364 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 482,381 | 639,075 |
| esv2422364 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 55,087,458 | 55,204,403 |
| esv2422364 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 59,779,270 | 59,936,708 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161420 | deletion | ND05165 | SNP array | SNP genotyping analysis | essv5161565 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161420 | Remapped | Perfect | NT_187693.1:g.(?_5 58572)_(716010_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 558,572 | 716,010 |
| essv5161420 | Remapped | Pass | NW_003571061.2:g.( ?_363080)_(459453_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 363,080 | 459,453 |
| essv5161420 | Remapped | Good | NW_003571060.1:g.( ?_480875)_(637781_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 480,875 | 637,781 |
| essv5161420 | Remapped | Good | NW_003571054.1:g.( ?_482381)_(639075_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 482,381 | 639,075 |
| essv5161420 | Remapped | Good | NC_000019.10:g.(?_ 54575991)_(5473343 0_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,575,991 | 54,733,430 |
| essv5161420 | Remapped | Pass | NC_000019.9:g.(?_5 5087458)_(55204403 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 55,087,458 | 55,204,403 |
| essv5161420 | Submitted genomic | NC_000019.8:g.(?_5 9779270)_(59936708 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 59,779,270 | 59,936,708 |