A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984393



Internal ID12630238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:95326410..95649910hg38UCSC Ensembl
Innerchr14:95792747..96116247hg19UCSC Ensembl
Innerchr14:94862500..95186000hg18UCSC Ensembl
Innerchr14:94862500..95186000hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38323501
hg19323501
hg18323501
hg17323501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751290
Supporting Variants
SamplesBEC_701
Known GenesGLRX5, LINC00341, SCARNA13, SNHG10, SYNE3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984393
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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