A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983827



Internal ID12629318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132954579..133404017hg38UCSC Ensembl
Innerchr11:132824474..133273912hg19UCSC Ensembl
Innerchr11:132329684..132779122hg18UCSC Ensembl
Innerchr11:132329684..132779122hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38449439
hg19449439
hg18449439
hg17449439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750983
Supporting Variants
SamplesBEC_631
Known GenesOPCML
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983827
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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