A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620738



Internal ID7007608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76180104..76195512hg38UCSC Ensembl
chr9:78795020..78810428hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3815409
hg1915409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13527249
SamplesHG01191
Known GenesPCSK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620738
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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