A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7613n54



Internal ID20141037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54036948..54041462hg38UCSC Ensembl
chr20:52653487..52658001hg19UCSC Ensembl
chr20:52086894..52091408hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384515
hg194515
hg184515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586276, nsv586279, nsv586274, nsv586273, nsv586275, nsv586278
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7613n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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