A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2817n54



Internal ID18994993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98888178..98931090hg38UCSC Ensembl
chr12:99281956..99324868hg19UCSC Ensembl
chr12:97806087..97848999hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3842913
hg1942913
hg1842913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559922, nsv559923
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2817n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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