A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9127n54



Internal ID20142551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70296786..70430316hg38UCSC Ensembl
chr4:71162503..71296033hg19UCSC Ensembl
chr4:71197092..71330622hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38133531
hg19133531
hg18133531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594648, nsv594647, nsv594650, nsv594649
SamplesHGDP00615
Known GenesCABS1, PROL1, SMR3A, SMR3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9127n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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