esv3841412
- 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:113,951
- 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: 321 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3841412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 103,264,124 | 103,378,074 |
| esv3841412 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 102,599,825 | 102,713,775 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv19671005 | copy number loss | NA12046 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,306 |
| essv19671006 | copy number gain | HG03118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,903 |
| essv19671007 | copy number variation | NA19025 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 4,206 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19671005 | Remapped | Perfect | NC_000005.10:g.103 264124_103378074de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 103,264,124 | 103,378,074 |
| essv19671006 | Remapped | Perfect | NC_000005.10:g.103 264124_103378074du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 103,264,124 | 103,378,074 |
| essv19671007 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 103,264,124 | 103,378,074 | |
| essv19671005 | Submitted genomic | NC_000005.9:g.1025 99825_102713775del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,599,825 | 102,713,775 | ||
| essv19671006 | Submitted genomic | NC_000005.9:g.1025 99825_102713775dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,599,825 | 102,713,775 | ||
| essv19671007 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,599,825 | 102,713,775 |