A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv269e215



Internal ID20151308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9168922..9168975hg38UCSC Ensembl
chr20:9149569..9149622hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3556810, esv3559761
Samples
Known GenesPLCB4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv269e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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