A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616533



Internal ID6656729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18975307..19052213hg38UCSC Ensembl
chr8:18832817..18909723hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3876907
hg1976907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13130962
SamplesHG00116
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616533
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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