A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986198



Internal ID12627198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67146052..67420064hg38UCSC Ensembl
Innerchr14:67612769..67886781hg19UCSC Ensembl
Innerchr14:66682522..66956534hg18UCSC Ensembl
Innerchr14:66682522..66956534hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38274013
hg19274013
hg18274013
hg17274013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751285
Supporting Variants
SamplesBEC_462
Known GenesATP6V1D, EIF2S1, FAM71D, GPHN, MPP5, PLEK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986198
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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