A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1742n54



Internal ID20135166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33043848..33455157hg38UCSC Ensembl
chr11:33065394..33476703hg19UCSC Ensembl
chr11:33021970..33433279hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38411310
hg19411310
hg18411310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv553994, nsv553995
Samples1780854545_A
Known GenesCSTF3, CSTF3-AS1, HIPK3, LINC00294, TCP11L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1742n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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