A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2821n54



Internal ID18994997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99401351..99406276hg38UCSC Ensembl
chr12:99795129..99800054hg19UCSC Ensembl
chr12:98319260..98324185hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384926
hg194926
hg184926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559938, nsv559947
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2821n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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