A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606514



Internal ID6993450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120238112..120260486hg38UCSC Ensembl
chr5:119573807..119596181hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3822375
hg1922375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1134e214
Supporting Variantsessv12038544
SamplesNA19054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606514
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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