A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988436



Internal ID12625812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63312433..63388129hg38UCSC Ensembl
Innerchr14:63779147..63854847hg19UCSC Ensembl
Innerchr14:62848900..62924600hg18UCSC Ensembl
Innerchr14:62848900..62924600hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3875697
hg1975701
hg1875701
hg1775701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751280
Supporting Variants
SamplesBEC_316
Known GenesGPHB5, PPP2R5E
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988436
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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