A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984910



Internal ID12637038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103212061..104054062hg38UCSC Ensembl
Innerchr11:103082790..103924790hg19UCSC Ensembl
Innerchr11:102588000..103430000hg18UCSC Ensembl
Innerchr11:102588000..103430000hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38842002
hg19842001
hg18842001
hg17842001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750977
Supporting Variants
SamplesSPC_193
Known GenesDDI1, DYNC2H1, MIR4693, PDGFD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984910
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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