A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978636



Internal ID12978876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:121593379..121662857hg38UCSC Ensembl
Innerchr11:121464088..121533566hg19UCSC Ensembl
Innerchr11:120969298..121038776hg18UCSC Ensembl
Innerchr11:120969298..121038776hg17UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3869479
hg1969479
hg1869479
hg1769479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34768
Supporting Variants
SamplesNA12056
Known GenesSORL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978636
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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