A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758508



Internal ID18386068
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 StatusS
Merged Variantsesv3559761
Supporting Variants
Samples
Known GenesPLCB4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758508
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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