A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585645



Internal ID347224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3780301..3780519hg38UCSC Ensembl
Outerchr2:3777877..3783013hg38UCSC Ensembl
Innerchr2:3827891..3828109hg19UCSC Ensembl
Outerchr2:3825467..3830603hg19UCSC Ensembl
Innerchr2:3805766..3805984hg18UCSC Ensembl
Outerchr2:3803342..3808478hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg385137
hg195137
hg185137
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275260
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585645
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer