A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8165n54



Internal ID20141589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2108716..2933889hg38UCSC Ensembl
chr3:2150400..2975573hg19UCSC Ensembl
chr3:2125400..2950573hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38825174
hg19825174
hg18825174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589375, nsv589369
Samples1780854080_A, NINDS_227
Known GenesCNTN4, CNTN4-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8165n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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