A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7482n54



Internal ID20140906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14886582..15093034hg38UCSC Ensembl
chr20:14867228..15073680hg19UCSC Ensembl
chr20:14815228..15021680hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38206453
hg19206453
hg18206453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585542, nsv585548
SamplesHGDP00066
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7482n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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