A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7473n54



Internal ID20140897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14759193..14903655hg38UCSC Ensembl
chr20:14739839..14884301hg19UCSC Ensembl
chr20:14687839..14832301hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38144463
hg19144463
hg18144463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585483, nsv585487, nsv585477
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7473n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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