A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988425



Internal ID12625676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100650910..100852910hg38UCSC Ensembl
Innerchr14:101117247..101319247hg19UCSC Ensembl
Innerchr14:100187000..100389000hg18UCSC Ensembl
Innerchr14:100187000..100389000hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38202001
hg19202001
hg18202001
hg17202001
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, MIR770
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988425
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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