A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2418n54



Internal ID20135842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27493793..27504092hg38UCSC Ensembl
chr12:27646726..27657025hg19UCSC Ensembl
chr12:27537993..27548292hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3810300
hg1910300
hg1810300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557809, nsv557814, nsv557813
Samples
Known GenesSMCO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2418n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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