A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2856n54



Internal ID20136280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109702208..109717766hg38UCSC Ensembl
chr12:110140013..110155571hg19UCSC Ensembl
chr12:108624396..108639954hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3815559
hg1915559
hg1815559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560128, nsv560125, nsv560122, nsv560124, nsv560126, nsv560127, nsv560123, nsv560129, nsv560120, nsv560119, nsv560121
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2856n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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