A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606533



Internal ID6993468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120672860..120698181hg38UCSC Ensembl
chr5:120008555..120033876hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3825322
hg1925322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12038959
SamplesHG02178
Known GenesPRR16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606533
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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