A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv164e55



Internal ID20126643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229802854..230128418hg38UCSC Ensembl
chr2:230667570..230993134hg19UCSC Ensembl
chr2:230375814..230701378hg18UCSC Ensembl
chr2:230493075..230818639hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38325565
hg19325565
hg18325565
hg17325565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751842, esv2751843
SamplesBEC_414, BEC_714
Known GenesFBXO36, SLC16A14, TRIP12
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)dgv164e55
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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