A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599102



Internal ID6986150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191304692..191335341hg38UCSC Ensembl
chr3:191022481..191053130hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3830650
hg1930650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11271034
SamplesHG01920
Known GenesCCDC50, UTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599102
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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