A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12336n54



Internal ID22780231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130839180..130840447hg38UCSC Ensembl
chr8:131851426..131852693hg19UCSC Ensembl
chr8:131920608..131921875hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381268
hg191268
hg181268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612309, nsv612312, nsv612314, nsv612304, nsv612313, nsv612311, nsv612305, nsv612308, nsv612306
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12336n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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