A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34388



Internal ID12990427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189756952..190009739hg38UCSC Ensembl
Innerchr4:190678106..190930894hg19UCSC Ensembl
Innerchr4:190915100..191167888hg18UCSC Ensembl
Innerchr4:191053255..191306043hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38252788
hg19252789
hg18252789
hg17252789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980051, essv6980050, essv6980053, essv6980052
SamplesNA18945
Known GenesFRG1, LOC283788
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)esv34388
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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