A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1293n100



Internal ID20152909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125204544..125225209hg38UCSC Ensembl
chr11:125074440..125095105hg19UCSC Ensembl
chr11:124579650..124600315hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3820666
hg1920666
hg1820666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038817, nsv1038848, nsv1045657, nsv1042312
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1293n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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