A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34483



Internal ID12643834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142135084..142375789hg38UCSC Ensembl
Innerchr3:141853926..142094631hg19UCSC Ensembl
Innerchr3:143336616..143577321hg18UCSC Ensembl
Innerchr3:143336624..143577329hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38240706
hg19240706
hg18240706
hg17240706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978674, essv6978673, essv6986683
SamplesNA12144
Known GenesGK5, TFDP2, XRN1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34483
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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