A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2291n54



Internal ID22770186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2795044..2796171hg38UCSC Ensembl
chr12:2904210..2905337hg19UCSC Ensembl
chr12:2774471..2775598hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381128
hg191128
hg181128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557081, nsv557080
Samples
Known GenesFKBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2291n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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