esv2556143
- 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:18,999
- Description:originalFile=Yoruban_large_indels_8.4x.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 | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv2556143 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 202,430,504 | 202,449,502 |
esv2556143 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 203,295,227 | 203,314,225 |
esv2556143 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 203,003,472 | 203,022,470 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv5292457 | Remapped | Perfect | NC_000002.12:g.(20 2430504_?)_(?_2024 49502)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 202,430,504 | 202,449,502 |
essv5292457 | Remapped | Perfect | NC_000002.11:g.(20 3295227_?)_(?_2033 14225)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 203,295,227 | 203,314,225 |
essv5292457 | Submitted genomic | NC_000002.10:g.(20 3003472_?)_(?_2030 22470)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 203,003,472 | 203,022,470 |