A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5946644



Internal ID8924047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133603659..133605405hg38UCSC Ensembl
chr3:133322503..133324249hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381747
hg191747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677101
Supporting Variants
SamplesHG00608
Known GenesTOPBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5946644
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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