A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7469n54



Internal ID20140893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14725242..15170084hg38UCSC Ensembl
chr20:14705888..15150730hg19UCSC Ensembl
chr20:14653888..15098730hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38444843
hg19444843
hg18444843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585469, nsv585488, nsv585464, nsv585522
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)dgv7469n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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