A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751279



Internal ID12638145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63287645..63404698hg38UCSC Ensembl
Innerchr14:63754363..63871416hg19UCSC Ensembl
Innerchr14:62824116..62941169hg18UCSC Ensembl
Innerchr14:62824116..62941169hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38117054
hg19117054
hg18117054
hg17117054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e55
Supporting Variantsessv6983253, essv6983254, essv6983255
SamplesBEC_560
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)esv2751279
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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