A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12335n54



Internal ID22780230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130839180..130840053hg38UCSC Ensembl
chr8:131851426..131852299hg19UCSC Ensembl
chr8:131920608..131921481hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38874
hg19874
hg18874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612307, nsv612310, nsv612303, nsv612302
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12335n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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