A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4729n100



Internal ID20156345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44247339..44297783hg38UCSC Ensembl
chr3:44288831..44339275hg19UCSC Ensembl
chr3:44263835..44314279hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3850445
hg1950445
hg1850445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000242, nsv1009400
Samples
Known GenesTOPAZ1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4729n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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