A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606517



Internal ID6993453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120244714..120262432hg38UCSC Ensembl
chr5:119580409..119598127hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3817719
hg1917719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1134e214
Supporting Variantsessv12038547
SamplesNA19054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606517
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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