esv2530591
- 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:19,370
- 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: 694 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 696 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2530591 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 109,685,489 | 109,704,858 |
| esv2530591 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 110,228,111 | 110,247,480 |
| esv2530591 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 110,029,634 | 110,049,003 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5331264 | Remapped | Perfect | NC_000001.11:g.(?_ 109685489)_(109704 858_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,685,489 | 109,704,858 |
| essv5331264 | Remapped | Perfect | NC_000001.10:g.(?_ 110228111)_(110247 480_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 110,228,111 | 110,247,480 |
| essv5331264 | Submitted genomic | NC_000001.9:g.(?_1 10029634)_(1100490 03_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 110,029,634 | 110,049,003 |