A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606415



Internal ID6993351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117026391..117063536hg38UCSC Ensembl
chr5:116362087..116399232hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3837146
hg1937146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12030701
SamplesNA21122
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606415
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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