A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978361



Internal ID12981836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123350240..124326240hg38UCSC Ensembl
Innerchr4:124271395..125247395hg19UCSC Ensembl
Innerchr4:124490845..125466845hg18UCSC Ensembl
Innerchr4:124629000..125605000hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38976001
hg19976001
hg18976001
hg17976001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34581
Supporting Variants
SamplesNA19007
Known GenesLINC01091, SPRY1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978361
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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