A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984394



Internal ID12630240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:95333710..95649110hg38UCSC Ensembl
Innerchr14:95800047..96115447hg19UCSC Ensembl
Innerchr14:94869800..95185200hg18UCSC Ensembl
Innerchr14:94869800..95185200hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38315401
hg19315401
hg18315401
hg17315401
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984394
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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