A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8891n54



Internal ID20142315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1181073..1261142hg38UCSC Ensembl
chr4:1174861..1254930hg19UCSC Ensembl
chr4:1164861..1244930hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3880070
hg1980070
hg1880070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593280, nsv593279
SamplesHGDP00546, NINDS_64
Known GenesCTBP1, CTBP1-AS, CTBP1-AS2, LOC100130872, SPON2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8891n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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