A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12858n54



Internal ID20146282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114154651..114178138hg38UCSC Ensembl
chr9:116916931..116940418hg19UCSC Ensembl
chr9:115956752..115980239hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3823488
hg1923488
hg1823488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615231, nsv615230
SamplesHGDP00774, NINDS_50
Known GenesCOL27A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12858n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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