A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114e55



Internal ID18985345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6608308..6642979hg38UCSC Ensembl
chr16:6658309..6692980hg19UCSC Ensembl
chr16:6598310..6632981hg18UCSC Ensembl
chr16:6598310..6632981hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3834672
hg1934672
hg1834672
hg1734672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34460, esv35083
SamplesNA10846, NA12145
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv114e55
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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