A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8453n54



Internal ID20141877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:96813383..96815051hg38UCSC Ensembl
chr3:96532227..96533895hg19UCSC Ensembl
chr3:98014917..98016585hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381669
hg191669
hg181669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591040, nsv591039
Samples
Known GenesEPHA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8453n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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