A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600909



Internal ID6987948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69456717..69537210hg38UCSC Ensembl
chr4:70322435..70402928hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3880494
hg1980494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11490143, essv11490141, essv11490142, essv11490144
SamplesHG03868, HG03968, HG03907, HG03729
Known GenesUGT2B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600909
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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