esv2641233
- 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:19,124
- 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: 337 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
esv2641233 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 202,430,289 | 202,449,412 |
esv2641233 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 203,295,012 | 203,314,135 |
esv2641233 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 203,003,257 | 203,022,380 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5238507 | Remapped | Perfect | NC_000002.12:g.(?_ 202430289)_(202449 412_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 202,430,289 | 202,449,412 |
essv5238507 | Remapped | Perfect | NC_000002.11:g.(?_ 203295012)_(203314 135_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 203,295,012 | 203,314,135 |
essv5238507 | Submitted genomic | NC_000002.10:g.(?_ 203003257)_(203022 380_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 203,003,257 | 203,022,380 |