A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv87e55



Internal ID20126566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63287645..63404698hg38UCSC Ensembl
chr14:63754363..63871416hg19UCSC Ensembl
chr14:62824116..62941169hg18UCSC Ensembl
chr14:62824116..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 Variants
Supporting Variantsesv2751280, esv2751281, esv2751279
SamplesBEC_560, BEC_335, BEC_316
Known GenesGPHB5, PPP2R5E, RHOJ
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv87e55
Frequency
Sample Size771
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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