A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984911



Internal ID12637037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103230061..104038062hg38UCSC Ensembl
Innerchr11:103100790..103908790hg19UCSC Ensembl
Innerchr11:102606000..103414000hg18UCSC Ensembl
Innerchr11:102606000..103414000hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38808002
hg19808001
hg18808001
hg17808001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984911
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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