esv2422216
- 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:318,022
- 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: 1444 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1444 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422216 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 89,771,154 | 90,089,175 |
| esv2422216 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 89,400,468 | 89,718,489 |
| esv2422216 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 89,045,119 | 89,363,140 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161540 | duplication | ND04045 | SNP array | SNP genotyping analysis | essv5161421 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161540 | Remapped | Perfect | NC_000007.14:g.(?_ 89771154)_(9008917 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,771,154 | 90,089,175 |
| essv5161540 | Remapped | Perfect | NC_000007.13:g.(?_ 89400468)_(8971848 9_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 89,400,468 | 89,718,489 |
| essv5161540 | Submitted genomic | NC_000007.11:g.(?_ 89045119)_(8936314 0_?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 89,045,119 | 89,363,140 |