A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986083



Internal ID12627731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77772167..78053167hg38UCSC Ensembl
Innerchr4:78693321..78974321hg19UCSC Ensembl
Innerchr4:78912345..79193345hg18UCSC Ensembl
Innerchr4:79050500..79331500hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38281001
hg19281001
hg18281001
hg17281001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752050
Supporting Variants
SamplesBEC_519
Known GenesCNOT6L, MRPL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986083
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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