A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981595



Internal ID12625669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100632910..100784910hg38UCSC Ensembl
Innerchr14:101099247..101251247hg19UCSC Ensembl
Innerchr14:100169000..100321000hg18UCSC Ensembl
Innerchr14:100169000..100321000hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38152001
hg19152001
hg18152001
hg17152001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751158
Supporting Variants
SamplesBEC_303
Known GenesDLK1, LINC00523
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981595
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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