A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751281



Internal ID12984833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63291714..63399968hg38UCSC Ensembl
Innerchr14:63758432..63866686hg19UCSC Ensembl
Innerchr14:62828185..62936439hg18UCSC Ensembl
Innerchr14:62828185..62936439hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38108255
hg19108255
hg18108255
hg17108255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e55
Supporting Variantsessv6981757, essv6985669, essv6981756
SamplesBEC_335
Known GenesGPHB5, PPP2R5E, RHOJ
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751281
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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