A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11155314



Internal ID1157130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133603582..133605621hg38UCSC Ensembl
Innerchr3:133603622..133605582hg38UCSC Ensembl
Outerchr3:133603543..133605661hg38UCSC Ensembl
chr3:133322426..133324465hg19UCSC Ensembl
Innerchr3:133322466..133324426hg19UCSC Ensembl
Outerchr3:133322387..133324505hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597847
Supporting Variants
SamplesHG03123
Known GenesTOPBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11155314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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