A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2818n54



Internal ID20136242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98894593..98895498hg38UCSC Ensembl
chr12:99288371..99289276hg19UCSC Ensembl
chr12:97812502..97813407hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38906
hg19906
hg18906
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559930, nsv559926, nsv559927
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2818n54
Frequency
Sample Size17421
Observed Gain23
Observed Loss3
Observed Complex0
Frequencyn/a


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