A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981363



Internal ID12973234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43349029..43754852hg38UCSC Ensembl
Innerchr14:43818232..44224055hg19UCSC Ensembl
Innerchr14:42887982..43293805hg18UCSC Ensembl
Innerchr14:42887982..43293805hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38405824
hg19405824
hg18405824
hg17405824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751276
Supporting Variants
SamplesBEC_395
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981363
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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