A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8894n54



Internal ID19001070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1248804..1250089hg38UCSC Ensembl
chr4:1242592..1243877hg19UCSC Ensembl
chr4:1232592..1233877hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381286
hg191286
hg181286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593294, nsv593296, nsv593295
Samples
Known GenesCTBP1, CTBP1-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8894n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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