A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979389



Internal ID12633413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:32797378..32901378hg38UCSC Ensembl
Innerchr11:32818924..32922924hg19UCSC Ensembl
Innerchr11:32775500..32879500hg18UCSC Ensembl
Innerchr11:32775500..32879500hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38104001
hg19104001
hg18104001
hg17104001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34742
Supporting Variants
SamplesNA18545
Known GenesPRRG4, QSER1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979389
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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