A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645179



Internal ID6685242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9018820..9211676hg38UCSC Ensembl
chr20:8999467..9192323hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38192857
hg19192857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16138703
SamplesHG00243
Known GenesPLCB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645179
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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