A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985638



Internal ID12625817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63291714..63388857hg38UCSC Ensembl
Innerchr14:63758432..63855575hg19UCSC Ensembl
Innerchr14:62828185..62925328hg18UCSC Ensembl
Innerchr14:62828185..62925328hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3897144
hg1997144
hg1897144
hg1797144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751280
Supporting Variants
SamplesBEC_316
Known GenesGPHB5, PPP2R5E, RHOJ
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985638
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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