A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16134064



Internal ID5912222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8407019..8603090hg38UCSC Ensembl
chr20:8387666..8583737hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38196072
hg19196072
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645165
Supporting Variants
SamplesNA19323
Known GenesPLCB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16134064
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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