A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2492n54



Internal ID22770387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33136887..33156863hg38UCSC Ensembl
chr12:33289821..33309797hg19UCSC Ensembl
chr12:33181088..33201064hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3819977
hg1919977
hg1819977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558190, nsv558193, nsv558192, nsv558191
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2492n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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