esv2676490
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,439
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 150 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2676490 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 117,886,298 | 117,886,455 | 117,898,583 | 117,898,736 |
| esv2676490 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 117,605,145 | 117,605,302 | 117,617,430 | 117,617,583 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5461110 | deletion | SAMN00001103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,547 |
| essv6342497 | deletion | SAMN00001171 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5461110 | Remapped | Perfect | NC_000003.12:g.(11 7886298_117886455) _(117898583_117898 736)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 117,886,298 | 117,886,455 | 117,898,583 | 117,898,736 |
| essv6342497 | Remapped | Perfect | NC_000003.12:g.(11 7886298_117886455) _(117898583_117898 736)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 117,886,298 | 117,886,455 | 117,898,583 | 117,898,736 |
| essv5461110 | Submitted genomic | NC_000003.11:g.(11 7605145_117605302) _(117617430_117617 583)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 117,605,145 | 117,605,302 | 117,617,430 | 117,617,583 | ||
| essv6342497 | Submitted genomic | NC_000003.11:g.(11 7605145_117605302) _(117617430_117617 583)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 117,605,145 | 117,605,302 | 117,617,430 | 117,617,583 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5461110 | 7 | SAMN00001103 | SNP array | Probe signal intensity | Pass |
| essv6342497 | 7 | SAMN00001171 | SNP array | Probe signal intensity | Pass |