esv3864044
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,836
- 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: 146 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3864044 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 54,601,255 (-1000, +500) | 54,614,090 (-500, +1000) |
| esv3864044 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 51,505,190 (-1000, +500) | 51,518,025 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv22428150 | deletion | HG02232 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,295 |
| essv22428151 | deletion | NA19428 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,082 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv22428150 | Remapped | Perfect | NC_000011.10:g.(54 600255_54601755)_( 54613590_54615090) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,601,255 (-1000, +500) | 54,614,090 (-500, +1000) |
| essv22428151 | Remapped | Perfect | NC_000011.10:g.(54 600255_54601755)_( 54613590_54615090) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,601,255 (-1000, +500) | 54,614,090 (-500, +1000) |
| essv22428150 | Submitted genomic | NC_000011.9:g.(515 04190_51505690)_(5 1517525_51519025)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 51,505,190 (-1000, +500) | 51,518,025 (-500, +1000) | ||
| essv22428151 | Submitted genomic | NC_000011.9:g.(515 04190_51505690)_(5 1517525_51519025)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 51,505,190 (-1000, +500) | 51,518,025 (-500, +1000) |