esv3586496
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13
- Publication(s):1000 Genomes Project Consortium et al. 2015
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 27 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3586496 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 76,232,259 (-0, +13) | 76,232,271 (-13, +0) |
| esv3586496 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 76,697,944 (-0, +13) | 76,697,956 (-13, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv9978293 | insertion | SAMN00001264 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,894 |
| essv9978294 | insertion | SAMN00001322 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,750 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9978293 | Remapped | Perfect | NC_000001.11:g.(76 232259_76232272)_( 76232258_76232271) ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 76,232,259 (-0, +13) | 76,232,271 (-13, +0) |
| essv9978294 | Remapped | Perfect | NC_000001.11:g.(76 232259_76232272)_( 76232258_76232271) ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 76,232,259 (-0, +13) | 76,232,271 (-13, +0) |
| essv9978293 | Submitted genomic | NC_000001.10:g.(76 697944_76697957)_( 76697943_76697956) ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 76,697,944 (-0, +13) | 76,697,956 (-13, +0) | ||
| essv9978294 | Submitted genomic | NC_000001.10:g.(76 697944_76697957)_( 76697943_76697956) ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 76,697,944 (-0, +13) | 76,697,956 (-13, +0) |