A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981596



Internal ID12625668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100651112..100833936hg38UCSC Ensembl
Innerchr14:101117449..101300273hg19UCSC Ensembl
Innerchr14:100187202..100370026hg18UCSC Ensembl
Innerchr14:100187202..100370026hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38182825
hg19182825
hg18182825
hg17182825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751158
Supporting Variants
SamplesBEC_303
Known GenesDLK1, LINC00523, MEG3, MIR2392
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981596
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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