esv2864
- Organism: Homo sapiens
- Study:estd3 (Wang et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:239
- Publication(s):Wang et al. 2008
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: 147 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 42 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2864 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 34,392,524 | 34,392,762 |
| esv2864 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187619.1 | Chr19|NT_1 87619.1 | 41,785 | 42,019 |
| esv2864 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 34,883,429 | 34,883,667 |
| esv2864 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 39,575,269 | 39,575,507 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv25305 | complex substitution | YH | Sequencing | Read depth and paired-end mapping | 2,682 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| essv25305 | Remapped | Good | GRCh38.p12 | Second Pass | NT_187619.1 | Chr19|NT_1 87619.1 | 41,785 | 42,019 |
| essv25305 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 34,392,524 | 34,392,762 |
| essv25305 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 34,883,429 | 34,883,667 |
| essv25305 | Submitted genomic | NCBI36 (hg18) | NC_000019.8 | Chr19 | 39,575,269 | 39,575,507 |