A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2342n54



Internal ID20135766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8697651..8698961hg38UCSC Ensembl
chr12:8850247..8851557hg19UCSC Ensembl
chr12:8741514..8742824hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381311
hg191311
hg181311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557347, nsv557346
Samples
Known GenesRIMKLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2342n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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