esv2971568
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,001
- Publication(s):Pang et al. 2014
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: 844 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 845 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2971568 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 379,265 | 399,265 |
| esv2971568 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 51,758 | 71,758 |
| esv2971568 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 62,618 | 82,618 |
| esv2971568 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 340,000 | 360,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7241135 | duplication | HuRef | Sequencing | Read depth | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7241135 | Remapped | Perfect | NT_187667.1:g.(?_5 1758)_(71758_?)dup | GRCh38.p12 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 51,758 | 71,758 |
| essv7241135 | Remapped | Perfect | NT_187634.1:g.(?_6 2618)_(82618_?)dup | GRCh38.p12 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 62,618 | 82,618 |
| essv7241135 | Remapped | Perfect | NC_000023.11:g.(?_ 379265)_(399265_?) dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 379,265 | 399,265 |
| essv7241135 | Submitted genomic | NC_000023.10:g.(?_ 340000)_(360000_?) dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 340,000 | 360,000 |