A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5004n100



Internal ID22791091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186709551..186739116hg38UCSC Ensembl
chr3:186427340..186456905hg19UCSC Ensembl
chr3:187910034..187939599hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3829566
hg1929566
hg1829566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998318, nsv1003155
Samples
Known GenesKNG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5004n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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