A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8890n54



Internal ID20142314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1165892..1243052hg38UCSC Ensembl
chr4:1159680..1236840hg19UCSC Ensembl
chr4:1149680..1226840hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3877161
hg1977161
hg1877161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593276, nsv593277
SamplesHGDP00788
Known GenesCTBP1, CTBP1-AS, LOC100130872, SPON2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8890n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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