A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34413



Internal ID12990452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:160887152..161016270hg38UCSC Ensembl
Innerchr4:161808304..161937422hg19UCSC Ensembl
Innerchr4:162027754..162156872hg18UCSC Ensembl
Innerchr4:162165909..162295027hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg38129119
hg19129119
hg18129119
hg17129119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv191e55
Supporting Variantsessv6980061, essv6990438, essv6980062
SamplesNA18947
Known Genes
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)esv34413
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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