A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11116267



Internal ID6609223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119311748..119313769hg38UCSC Ensembl
Innerchr3:119311775..119313743hg38UCSC Ensembl
Outerchr3:119311722..119313796hg38UCSC Ensembl
chr3:119030595..119032616hg19UCSC Ensembl
Innerchr3:119030622..119032590hg19UCSC Ensembl
Outerchr3:119030569..119032643hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382022
hg192022
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597556
Supporting Variants
SamplesNA20774
Known GenesARHGAP31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11116267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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