A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3140n54



Internal ID22771035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49546299..49616110hg38UCSC Ensembl
chr13:50120435..50190246hg19UCSC Ensembl
chr13:49018436..49088247hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3869812
hg1969812
hg1869812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561616, nsv561617
SamplesHGDP00873
Known GenesRCBTB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3140n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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