A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606829



Internal ID6993764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133790833..133795185hg38UCSC Ensembl
chr5:133126524..133130876hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384353
hg194353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12065340, essv12065339
SamplesHG02136, NA18907
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606829
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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