A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982113



Internal ID12974466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134440896..134846896hg38UCSC Ensembl
Innerchr11:134310790..134716790hg19UCSC Ensembl
Innerchr11:133816000..134222000hg18UCSC Ensembl
Innerchr11:133816000..134222000hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38406001
hg19406001
hg18406001
hg17406001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750985
Supporting Variants
SamplesBEC_521
Known GenesLOC283177
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982113
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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