A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7480n54



Internal ID20140904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14857319..14889752hg38UCSC Ensembl
chr20:14837965..14870398hg19UCSC Ensembl
chr20:14785965..14818398hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3832434
hg1932434
hg1832434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585537, nsv585536
SamplesHGDP00700, HGDP00733
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7480n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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