A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4160n100



Internal ID20155776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208363948..208382659hg38UCSC Ensembl
chr2:209228673..209247384hg19UCSC Ensembl
chr2:208936918..208955629hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3818712
hg1918712
hg1818712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997721, nsv1006323
Samples
Known GenesPTH2R
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4160n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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