A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585193



Internal ID346772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210486622..210487383hg38UCSC Ensembl
Outerchr1:210484992..210489656hg38UCSC Ensembl
Innerchr1:210659966..210660727hg19UCSC Ensembl
Outerchr1:210658336..210663000hg19UCSC Ensembl
Innerchr1:208726589..208727350hg18UCSC Ensembl
Outerchr1:208724959..208729623hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384665
hg194665
hg184665
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275540
Supporting Variants
Samples
Known GenesHHAT
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585193
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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