A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11271035



Internal ID3333432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191304692..191335341hg38UCSC Ensembl
chr3:191022481..191053130hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3830650
hg1930650
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599103
Supporting Variants
SamplesHG02976
Known GenesCCDC50, UTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11271035
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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