A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2863n54



Internal ID20136287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111034121..111035030hg38UCSC Ensembl
chr12:111471925..111472834hg19UCSC Ensembl
chr12:109956308..109957217hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38910
hg19910
hg18910
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560159, nsv560165
Samples
Known GenesCUX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2863n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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