A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2792n54



Internal ID20136216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93570630..93572088hg38UCSC Ensembl
chr12:93964406..93965864hg19UCSC Ensembl
chr12:92488537..92489995hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381459
hg191459
hg181459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559780, nsv559781
Samples
Known GenesSOCS2, SOCS2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2792n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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