A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2417n54



Internal ID20135841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27068022..27638988hg38UCSC Ensembl
chr12:27220955..27791921hg19UCSC Ensembl
chr12:27112222..27683188hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38570967
hg19570967
hg18570967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557806, nsv557807
Samples
Known GenesARNTL2, C12orf71, PPFIBP1, SMCO2, STK38L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2417n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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