A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34489



Internal ID12990526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140290178..140750460hg38UCSC Ensembl
Innerchr3:140009020..140469302hg19UCSC Ensembl
Innerchr3:141491710..141951992hg18UCSC Ensembl
Innerchr3:141491718..141952000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38460283
hg19460283
hg18460283
hg17460283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986644, essv6990255, essv6986645, essv6978574, essv6986643, essv6978570, essv6978571, essv6978573, essv6978572
SamplesNA11994
Known GenesCLSTN2, CLSTN2-AS1, TRIM42
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34489
Frequency
Sample Size771
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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