A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978279



Internal ID12981706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77954904..78015504hg38UCSC Ensembl
Innerchr14:78421247..78481847hg19UCSC Ensembl
Innerchr14:77491000..77551600hg18UCSC Ensembl
Innerchr14:77491000..77551600hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3860601
hg1960601
hg1860601
hg1760601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34345
Supporting Variants
SamplesNA18995
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978279
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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