esv2658074
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,726
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 553 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 748 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2658074 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 485,964 | 501,689 |
| esv2658074 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,250,754 | 2,266,479 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5653067 | deletion | SAMN00001163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,404 |
| essv5654852 | deletion | SAMN00001184 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,618 |
| essv6062037 | deletion | SAMN00009140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,417 |
| essv6336181 | deletion | SAMN00001189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,771 |
| essv6490836 | deletion | SAMN00001101 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,545 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5653067 | Remapped | Perfect | NT_187576.1:g.4859 64_501689delGTATGT T | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 485,964 | 501,689 |
| essv5654852 | Remapped | Perfect | NT_187576.1:g.4859 64_501689delGTATGT T | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 485,964 | 501,689 |
| essv6062037 | Remapped | Perfect | NT_187576.1:g.4859 64_501689delGTATGT T | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 485,964 | 501,689 |
| essv6336181 | Remapped | Perfect | NT_187576.1:g.4859 64_501689delGTATGT T | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 485,964 | 501,689 |
| essv6490836 | Remapped | Perfect | NT_187576.1:g.4859 64_501689delGTATGT T | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 485,964 | 501,689 |
| essv5653067 | Submitted genomic | NC_000008.10:g.225 0754_2266479delGTA TGTT | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,250,754 | 2,266,479 | ||
| essv5654852 | Submitted genomic | NC_000008.10:g.225 0754_2266479delGTA TGTT | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,250,754 | 2,266,479 | ||
| essv6062037 | Submitted genomic | NC_000008.10:g.225 0754_2266479delGTA TGTT | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,250,754 | 2,266,479 | ||
| essv6336181 | Submitted genomic | NC_000008.10:g.225 0754_2266479delGTA TGTT | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,250,754 | 2,266,479 | ||
| essv6490836 | Submitted genomic | NC_000008.10:g.225 0754_2266479delGTA TGTT | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,250,754 | 2,266,479 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6490836 | 9 | SAMN00001101 | Oligo aCGH | Probe signal intensity | Pass |
| essv5653067 | 9 | SAMN00001163 | Oligo aCGH | Probe signal intensity | Pass |
| essv5654852 | 9 | SAMN00001184 | Oligo aCGH | Probe signal intensity | Pass |
| essv6336181 | 9 | SAMN00001189 | Oligo aCGH | Probe signal intensity | Pass |
| essv6062037 | 9 | SAMN00009140 | Oligo aCGH | Probe signal intensity | Pass |
| essv6490836 | 7 | SAMN00001101 | SNP array | Probe signal intensity | Pass |
| essv5653067 | 7 | SAMN00001163 | SNP array | Probe signal intensity | Pass |
| essv5654852 | 7 | SAMN00001184 | SNP array | Probe signal intensity | Pass |
| essv6336181 | 7 | SAMN00001189 | SNP array | Probe signal intensity | Pass |
| essv6062037 | 7 | SAMN00009140 | SNP array | Probe signal intensity | Pass |