A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5005n100



Internal ID20156621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186709551..186836503hg38UCSC Ensembl
chr3:186427340..186554292hg19UCSC Ensembl
chr3:187910034..188036986hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38126953
hg19126953
hg18126953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002715, nsv1011780, nsv1014120, nsv1008764, nsv1013234
Samples
Known GenesEIF4A2, KNG1, MIR1248, RFC4, SNORA4, SNORA63, SNORA81, SNORD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5005n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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