esv2666047
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:79,086
- Description:High quality site
- 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: 835 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 836 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2666047 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| esv2666047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5471197 | deletion | SAMN00001190 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
| essv5493341 | deletion | SAMN00001187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
| essv5974419 | deletion | SAMN00001163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,404 |
| essv6013986 | deletion | SAMN00001121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,383 |
| essv6192219 | deletion | SAMN00001192 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,334 |
| essv6413495 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
| essv6430527 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5471197 | Remapped | Perfect | NC_000005.10:g.175 26904_17605989delA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| essv5493341 | Remapped | Perfect | NC_000005.10:g.175 26904_17605989delA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| essv5974419 | Remapped | Perfect | NC_000005.10:g.175 26904_17605989delA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| essv6013986 | Remapped | Perfect | NC_000005.10:g.175 26904_17605989delA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| essv6192219 | Remapped | Perfect | NC_000005.10:g.175 26904_17605989delA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| essv6413495 | Remapped | Perfect | NC_000005.10:g.175 26904_17605989delA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| essv6430527 | Remapped | Perfect | NC_000005.10:g.175 26904_17605989delA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,526,904 | 17,605,989 |
| essv5471197 | Submitted genomic | NC_000005.9:g.1752 7013_17606098delA | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 | ||
| essv5493341 | Submitted genomic | NC_000005.9:g.1752 7013_17606098delA | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 | ||
| essv5974419 | Submitted genomic | NC_000005.9:g.1752 7013_17606098delA | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 | ||
| essv6013986 | Submitted genomic | NC_000005.9:g.1752 7013_17606098delA | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 | ||
| essv6192219 | Submitted genomic | NC_000005.9:g.1752 7013_17606098delA | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 | ||
| essv6413495 | Submitted genomic | NC_000005.9:g.1752 7013_17606098delA | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 | ||
| essv6430527 | Submitted genomic | NC_000005.9:g.1752 7013_17606098delA | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,527,013 | 17,606,098 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6013986 | 9 | SAMN00001121 | Oligo aCGH | Probe signal intensity | Pass |
| essv5974419 | 9 | SAMN00001163 | Oligo aCGH | Probe signal intensity | Pass |
| essv6413495 | 9 | SAMN00001164 | Oligo aCGH | Probe signal intensity | Pass |
| essv6430527 | 9 | SAMN00001170 | Oligo aCGH | Probe signal intensity | Pass |
| essv5493341 | 9 | SAMN00001187 | Oligo aCGH | Probe signal intensity | Pass |
| essv5471197 | 9 | SAMN00001190 | Oligo aCGH | Probe signal intensity | Pass |
| essv6192219 | 9 | SAMN00001192 | Oligo aCGH | Probe signal intensity | Pass |
| essv6013986 | 7 | SAMN00001121 | SNP array | Probe signal intensity | Pass |
| essv5974419 | 7 | SAMN00001163 | SNP array | Probe signal intensity | Pass |
| essv6413495 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
| essv6430527 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
| essv5493341 | 7 | SAMN00001187 | SNP array | Probe signal intensity | Pass |
| essv5471197 | 7 | SAMN00001190 | SNP array | Probe signal intensity | Pass |
| essv6192219 | 7 | SAMN00001192 | SNP array | Probe signal intensity | Pass |