A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2857n54



Internal ID20136281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109712747..109714801hg38UCSC Ensembl
chr12:110150552..110152606hg19UCSC Ensembl
chr12:108634935..108636989hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382055
hg192055
hg182055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560131, nsv560130
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2857n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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