A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2272n54



Internal ID20135696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1593541..1594787hg38UCSC Ensembl
chr12:1702707..1703953hg19UCSC Ensembl
chr12:1572968..1574214hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381247
hg191247
hg181247
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556988, nsv556991
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2272n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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