A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3052n54



Internal ID22770947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132578397..132605822hg38UCSC Ensembl
chr12:133154983..133182408hg19UCSC Ensembl
chr12:131665056..131692481hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827426
hg1927426
hg1827426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561106, nsv561107
Samples1780862093_A
Known GenesFBRSL1, LRCOL1, MIR6763
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3052n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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