A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978674



Internal ID12632247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142135460..142296460hg38UCSC Ensembl
Innerchr3:141854302..142015302hg19UCSC Ensembl
Innerchr3:143336992..143497992hg18UCSC Ensembl
Innerchr3:143337000..143498000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38161001
hg19161001
hg18161001
hg17161001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34483
Supporting Variants
SamplesNA12144
Known GenesGK5, TFDP2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978674
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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