esv3399898
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:856
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 289 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3399898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 56,879,538 (-110, +856) | 56,880,393 (-856, +120) |
| esv3399898 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 92,786 (-110, +856) | 93,641 (-856, +120) |
| esv3399898 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 59,025,685 (-110, +856) | 59,026,540 (-856, +120) |
| esv3399898 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 57,435,073 (-110, +856) | 57,435,928 (-856, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809655 | duplication | SAMN00801888 | Sequencing | Paired-end mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8809655 | Remapped | Perfect | NW_009646209.1:g.( 92676_93642)_(9278 5_93761)dup | GRCh38.p12 | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 92,786 (-110, +856) | 93,641 (-856, +120) |
| essv8809655 | Remapped | Perfect | NC_000024.10:g.(56 879428_56880394)_( 56879537_56880513) dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 56,879,538 (-110, +856) | 56,880,393 (-856, +120) |
| essv8809655 | Remapped | Perfect | NC_000024.9:g.(590 25575_59026541)_(5 9025684_59026660)d up | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 59,025,685 (-110, +856) | 59,026,540 (-856, +120) |
| essv8809655 | Submitted genomic | NC_000024.8:g.(574 34963_57435929)_(5 7435072_57436048)d up886 | NCBI36 (hg18) | NC_000024.8 | ChrY | 57,435,073 (-110, +856) | 57,435,928 (-856, +120) |