A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2523n54



Internal ID22770418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:34674072..34703445hg38UCSC Ensembl
chr12:34827007..34856380hg19UCSC Ensembl
chr12:34718274..34747647hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3829374
hg1929374
hg1829374
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558344, nsv558345
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2523n54
Frequency
Sample Size17421
Observed Gain45
Observed Loss8
Observed Complex0
Frequencyn/a


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