A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2770n54



Internal ID22770665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86419589..87512101hg38UCSC Ensembl
chr12:86813367..87905878hg19UCSC Ensembl
chr12:85337498..86430009hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381092513
hg191092512
hg181092512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559689, nsv559688
Samples
Known GenesMGAT4C, MIR548AL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2770n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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