A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981593



Internal ID12625671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100601952..100841992hg38UCSC Ensembl
Innerchr14:101068289..101308329hg19UCSC Ensembl
Innerchr14:100138042..100378082hg18UCSC Ensembl
Innerchr14:100138042..100378082hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38240041
hg19240041
hg18240041
hg17240041
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981593
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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