A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983270



Internal ID12975098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19944880..19951992hg38UCSC Ensembl
Innerchr14:20413039..20420151hg19UCSC Ensembl
Innerchr14:19482879..19489991hg18UCSC Ensembl
Innerchr14:19482879..19489991hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg387113
hg197113
hg187113
hg177113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751167
Supporting Variants
SamplesBEC_561
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983270
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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