esv275095
- 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:13,720
- 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: 138 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275095 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 11,053,013 | 11,057,974 | 11,058,364 | 11,066,732 |
| esv275095 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 11,163,689 | 11,168,650 | 11,169,040 | 11,177,408 |
| esv275095 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 11,024,689 | 11,029,650 | 11,030,040 | 11,038,408 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585994 | copy number gain | SNP array | Other |
| essv2586023 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585994 | Remapped | Perfect | NC_000019.10:g.(11 053013_11057974)_( 11058364_11066732) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 11,053,013 | 11,057,974 | 11,058,364 | 11,066,732 |
| essv2586023 | Remapped | Perfect | NC_000019.10:g.(11 053013_11057974)_( 11058364_11066732) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 11,053,013 | 11,057,974 | 11,058,364 | 11,066,732 |
| essv2585994 | Remapped | Perfect | NC_000019.9:g.(111 63689_11168650)_(1 1169040_11177408)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 11,163,689 | 11,168,650 | 11,169,040 | 11,177,408 |
| essv2586023 | Remapped | Perfect | NC_000019.9:g.(111 63689_11168650)_(1 1169040_11177408)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 11,163,689 | 11,168,650 | 11,169,040 | 11,177,408 |
| essv2585994 | Submitted genomic | NC_000019.8:g.(110 24689_11029650)_(1 1030040_11038408)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 11,024,689 | 11,029,650 | 11,030,040 | 11,038,408 | ||
| essv2586023 | Submitted genomic | NC_000019.8:g.(110 24689_11029650)_(1 1030040_11038408)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 11,024,689 | 11,029,650 | 11,030,040 | 11,038,408 |