A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2190n54



Internal ID20135614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125205679..125215292hg38UCSC Ensembl
chr11:125075575..125085188hg19UCSC Ensembl
chr11:124580785..124590398hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg389614
hg199614
hg189614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556514, nsv556515, nsv556507, nsv556509, nsv556501, nsv556519, nsv556513, nsv556508, nsv556495, nsv556496, nsv556500
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2190n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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