esv2657395
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Yes
- Clinical Assertions: No
- Region Size:49,362
- 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: 247 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 247 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2657395 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 74,032,091 | 74,081,452 |
esv2657395 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 74,741,807 | 74,791,168 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5506020 | deletion | SAMN00001648 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,343 |
essv5891473 | deletion | SAMN00001310 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 981 |
essv5900586 | deletion | SAMN00801105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,002 |
essv6071663 | deletion | SAMN00000427 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,692 |
essv6235299 | deletion | SAMN00001035 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,325 |
essv6336217 | deletion | SAMN00001251 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 740 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5506020 | Remapped | Perfect | NC_000006.12:g.740 32091_74081452delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,091 | 74,081,452 |
essv5891473 | Remapped | Perfect | NC_000006.12:g.740 32091_74081452delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,091 | 74,081,452 |
essv5900586 | Remapped | Perfect | NC_000006.12:g.740 32091_74081452delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,091 | 74,081,452 |
essv6071663 | Remapped | Perfect | NC_000006.12:g.740 32091_74081452delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,091 | 74,081,452 |
essv6235299 | Remapped | Perfect | NC_000006.12:g.740 32091_74081452delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,091 | 74,081,452 |
essv6336217 | Remapped | Perfect | NC_000006.12:g.740 32091_74081452delA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 74,032,091 | 74,081,452 |
essv5506020 | Submitted genomic | NC_000006.11:g.747 41807_74791168delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 74,741,807 | 74,791,168 | ||
essv5891473 | Submitted genomic | NC_000006.11:g.747 41807_74791168delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 74,741,807 | 74,791,168 | ||
essv5900586 | Submitted genomic | NC_000006.11:g.747 41807_74791168delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 74,741,807 | 74,791,168 | ||
essv6071663 | Submitted genomic | NC_000006.11:g.747 41807_74791168delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 74,741,807 | 74,791,168 | ||
essv6235299 | Submitted genomic | NC_000006.11:g.747 41807_74791168delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 74,741,807 | 74,791,168 | ||
essv6336217 | Submitted genomic | NC_000006.11:g.747 41807_74791168delA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 74,741,807 | 74,791,168 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6071663 | 7 | SAMN00000427 | SNP array | Probe signal intensity | Pass |
essv6235299 | 7 | SAMN00001035 | SNP array | Probe signal intensity | Pass |
essv6336217 | 7 | SAMN00001251 | SNP array | Probe signal intensity | Pass |
essv5891473 | 7 | SAMN00001310 | SNP array | Probe signal intensity | Pass |
essv5506020 | 7 | SAMN00001648 | SNP array | Probe signal intensity | Pass |
essv5900586 | 7 | SAMN00801105 | SNP array | Probe signal intensity | Pass |