esv2569215
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,158
- Description:originalFile=Yoruban_cnv.gff
- Publication(s):McKernan et al. 2009
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: 601 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 704 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2569215 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 148,235,211 | 148,257,368 |
| esv2569215 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 147,707,483 | 147,729,639 |
| esv2569215 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 146,174,107 | 146,196,263 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5212793 | Remapped | Good | NC_000001.11:g.(?_ 148235211)_(148257 368_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 148,235,211 | 148,257,368 |
| essv5212793 | Remapped | Perfect | NC_000001.10:g.(?_ 147707483)_(147729 639_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 147,707,483 | 147,729,639 |
| essv5212793 | Submitted genomic | NC_000001.9:g.(?_1 46174107)_(1461962 63_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 146,174,107 | 146,196,263 |