esv2665721
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:14,606
- 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: 841 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 841 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2665721 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,939,636 | 241,939,673 | 241,954,191 | 241,954,241 |
| esv2665721 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 152,507 | 152,507 | 167,102 | 167,102 |
| esv2665721 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,881,787 | 242,881,824 | 242,896,342 | 242,896,392 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6294310 | deletion | SAMN00001590 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,510 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6294310 | Remapped | Good | NT_187527.1:g.(152 507_152507)_(16710 2_167102)del | GRCh38.p12 | Second Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 152,507 | 152,507 | 167,102 | 167,102 |
| essv6294310 | Remapped | Perfect | NC_000002.12:g.(24 1939636_241939673) _(241954191_241954 241)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,939,636 | 241,939,673 | 241,954,191 | 241,954,241 |
| essv6294310 | Submitted genomic | NC_000002.11:g.(24 2881787_242881824) _(242896342_242896 392)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,881,787 | 242,881,824 | 242,896,342 | 242,896,392 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6294310 | 7 | SAMN00001590 | SNP array | Probe signal intensity | Pass |