A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7472n54



Internal ID20140896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14757197..15036594hg38UCSC Ensembl
chr20:14737843..15017240hg19UCSC Ensembl
chr20:14685843..14965240hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38279398
hg19279398
hg18279398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585480, nsv585489, nsv585476, nsv585484
SamplesHGDP00372, HGDP00643
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7472n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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