A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv88e55



Internal ID20126567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63312397..63388857hg38UCSC Ensembl
chr14:63779111..63855575hg19UCSC Ensembl
chr14:62848864..62925328hg18UCSC Ensembl
chr14:62848864..62925328hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3876461
hg1976465
hg1876465
hg1776465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751283, esv2751284, esv2751282
SamplesBEC_330, BEC_727, BEC_636
Known GenesGPHB5, PPP2R5E
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv88e55
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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