A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7483n54



Internal ID20140907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14891667..14950848hg38UCSC Ensembl
chr20:14872313..14931494hg19UCSC Ensembl
chr20:14820313..14879494hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3859182
hg1959182
hg1859182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585544, nsv585546
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)dgv7483n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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