A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12289n54



Internal ID22780184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117862068..117863069hg38UCSC Ensembl
chr8:118874307..118875308hg19UCSC Ensembl
chr8:118943488..118944489hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381002
hg191002
hg181002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612029, nsv612031, nsv612030, nsv612028
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12289n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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