esv3841849
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:115,606
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 971 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 971 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3841849 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 118,431,869 | 118,547,474 |
| esv3841849 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 117,767,564 | 117,883,169 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv19714819 | copy number loss | NA07056 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,450 |
| essv19714820 | copy number variation | NA19682 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 3,552 |
| essv19714821 | copy number gain | HG04164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,709 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19714819 | Remapped | Perfect | NC_000005.10:g.118 431869_118547474de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,431,869 | 118,547,474 |
| essv19714820 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,431,869 | 118,547,474 | |
| essv19714821 | Remapped | Perfect | NC_000005.10:g.118 431869_118547474du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,431,869 | 118,547,474 |
| essv19714819 | Submitted genomic | NC_000005.9:g.1177 67564_117883169del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 117,767,564 | 117,883,169 | ||
| essv19714820 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 117,767,564 | 117,883,169 | |||
| essv19714821 | Submitted genomic | NC_000005.9:g.1177 67564_117883169dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 117,767,564 | 117,883,169 |