esv3625695
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:186,142
- 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: 775 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 775 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3625695 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 25,107,565 | 25,293,706 |
| esv3625695 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 129,033 |
| esv3625695 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 25,129,111 | 25,315,252 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14062862 | copy number loss | SAMN01761304 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,309 |
| essv14062863 | copy number loss | SAMN00001664 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,408 |
| essv14062864 | copy number loss | SAMN00001665 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,380 |
| essv14062865 | copy number loss | SAMN00004482 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,888 |
| essv14062866 | copy number gain | SAMN00801372 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,783 |
| essv14062867 | copy number gain | SAMN00001263 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,919 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14062862 | Remapped | Pass | NW_003315936.1:g.1 _129033del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 129,033 |
| essv14062863 | Remapped | Pass | NW_003315936.1:g.1 _129033del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 129,033 |
| essv14062864 | Remapped | Pass | NW_003315936.1:g.1 _129033del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 129,033 |
| essv14062865 | Remapped | Pass | NW_003315936.1:g.1 _129033del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 129,033 |
| essv14062866 | Remapped | Pass | NW_003315936.1:g.1 _129033dup | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 129,033 |
| essv14062867 | Remapped | Pass | NW_003315936.1:g.1 _129033dup | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 129,033 |
| essv14062862 | Remapped | Perfect | NC_000011.10:g.251 07565_25293706del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,107,565 | 25,293,706 |
| essv14062863 | Remapped | Perfect | NC_000011.10:g.251 07565_25293706del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,107,565 | 25,293,706 |
| essv14062864 | Remapped | Perfect | NC_000011.10:g.251 07565_25293706del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,107,565 | 25,293,706 |
| essv14062865 | Remapped | Perfect | NC_000011.10:g.251 07565_25293706del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,107,565 | 25,293,706 |
| essv14062866 | Remapped | Perfect | NC_000011.10:g.251 07565_25293706dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,107,565 | 25,293,706 |
| essv14062867 | Remapped | Perfect | NC_000011.10:g.251 07565_25293706dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,107,565 | 25,293,706 |
| essv14062862 | Submitted genomic | NC_000011.9:g.2512 9111_25315252del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,129,111 | 25,315,252 | ||
| essv14062863 | Submitted genomic | NC_000011.9:g.2512 9111_25315252del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,129,111 | 25,315,252 | ||
| essv14062864 | Submitted genomic | NC_000011.9:g.2512 9111_25315252del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,129,111 | 25,315,252 | ||
| essv14062865 | Submitted genomic | NC_000011.9:g.2512 9111_25315252del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,129,111 | 25,315,252 | ||
| essv14062866 | Submitted genomic | NC_000011.9:g.2512 9111_25315252dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,129,111 | 25,315,252 | ||
| essv14062867 | Submitted genomic | NC_000011.9:g.2512 9111_25315252dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 25,129,111 | 25,315,252 |