A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3049n54



Internal ID22770944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132509600..132512468hg38UCSC Ensembl
chr12:133086186..133089054hg19UCSC Ensembl
chr12:131596259..131599127hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382869
hg192869
hg182869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561095, nsv561097, nsv561098
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3049n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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