A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4732n100



Internal ID20156348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46750043..46838650hg38UCSC Ensembl
chr3:46791533..46880140hg19UCSC Ensembl
chr3:46766537..46855144hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3888608
hg1988608
hg1888608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012239, nsv1004128, nsv1000774, nsv1004260, nsv1004452, nsv1002604, nsv1006358, nsv1007196, nsv1012966, nsv999521, nsv1012400
Samples
Known GenesPRSS42
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4732n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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