A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7485n54



Internal ID22775380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14897008..14974297hg38UCSC Ensembl
chr20:14877654..14954943hg19UCSC Ensembl
chr20:14825654..14902943hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3877290
hg1977290
hg1877290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585550, nsv585547
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)dgv7485n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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