A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982516



Internal ID12627186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67146052..67408794hg38UCSC Ensembl
Innerchr14:67612769..67875511hg19UCSC Ensembl
Innerchr14:66682522..66945264hg18UCSC Ensembl
Innerchr14:66682522..66945264hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38262743
hg19262743
hg18262743
hg17262743
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)essv6982516
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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