esv3594888
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,614
- 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: 736 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 736 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3594888 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 210,087 | 263,700 |
| esv3594888 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 251,770 | 305,383 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10897458 | copy number loss | SAMN00263025 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,756 |
| essv10897459 | copy number loss | SAMN01036713 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,109 |
| essv10897460 | copy number gain | SAMN00007788 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,554 |
| essv10897461 | copy number gain | SAMN00007789 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,431 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10897458 | Remapped | Perfect | NC_000003.12:g.210 087_263700del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 210,087 | 263,700 |
| essv10897459 | Remapped | Perfect | NC_000003.12:g.210 087_263700del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 210,087 | 263,700 |
| essv10897460 | Remapped | Perfect | NC_000003.12:g.210 087_263700dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 210,087 | 263,700 |
| essv10897461 | Remapped | Perfect | NC_000003.12:g.210 087_263700dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 210,087 | 263,700 |
| essv10897458 | Submitted genomic | NC_000003.11:g.251 770_305383del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 251,770 | 305,383 | ||
| essv10897459 | Submitted genomic | NC_000003.11:g.251 770_305383del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 251,770 | 305,383 | ||
| essv10897460 | Submitted genomic | NC_000003.11:g.251 770_305383dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 251,770 | 305,383 | ||
| essv10897461 | Submitted genomic | NC_000003.11:g.251 770_305383dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 251,770 | 305,383 |