esv2590629
- 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:16,286
- 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: 642 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 642 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2590629 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,392,321 | 1,408,606 |
| esv2590629 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187654.1 | Chr8|NT_18 7654.1 | 2,605 | 18,890 |
| esv2590629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 1,340,487 | 1,356,772 |
| esv2590629 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 1,327,894 | 1,344,179 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5163259 | Remapped | Perfect | NT_187654.1:g.(?_2 605)_(18890_?)del | GRCh38.p12 | Second Pass | NT_187654.1 | Chr8|NT_18 7654.1 | 2,605 | 18,890 |
| essv5163259 | Remapped | Perfect | NC_000008.11:g.(?_ 1392321)_(1408606_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,392,321 | 1,408,606 |
| essv5163259 | Remapped | Perfect | NC_000008.10:g.(?_ 1340487)_(1356772_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 1,340,487 | 1,356,772 |
| essv5163259 | Submitted genomic | NC_000008.9:g.(?_1 327894)_(1344179_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 1,327,894 | 1,344,179 |