A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2977n54



Internal ID20136401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130222462..130829669hg38UCSC Ensembl
chr12:130707007..131314214hg19UCSC Ensembl
chr12:129272960..129880167hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38607208
hg19607208
hg18607208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560739, nsv560738
Samples
Known GenesPIWIL1, RIMBP2, STX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2977n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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