A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980217



Internal ID12981458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3622648..3720832hg38UCSC Ensembl
Innerchr4:3624375..3722559hg19UCSC Ensembl
Innerchr4:3594173..3692357hg18UCSC Ensembl
Innerchr4:3661344..3759528hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3898185
hg1998185
hg1898185
hg1798185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35161
Supporting Variants
SamplesNA18969
Known GenesLOC100133461
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980217
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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