A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3051n54



Internal ID20136475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132510697..132553706hg38UCSC Ensembl
chr12:133087283..133130292hg19UCSC Ensembl
chr12:131597356..131640365hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3843010
hg1943010
hg1843010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561101, nsv561103, nsv561102
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3051n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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