A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978278



Internal ID12981705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77954860..78015545hg38UCSC Ensembl
Innerchr14:78421203..78481888hg19UCSC Ensembl
Innerchr14:77490956..77551641hg18UCSC Ensembl
Innerchr14:77490956..77551641hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3860686
hg1960686
hg1860686
hg1760686
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)essv6978278
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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