A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11069706



Internal ID1071522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94089651..94096921hg38UCSC Ensembl
Innerchr3:94089801..94096771hg38UCSC Ensembl
Outerchr3:94089501..94097071hg38UCSC Ensembl
chr3:93808495..93815765hg19UCSC Ensembl
Innerchr3:93808645..93815615hg19UCSC Ensembl
Outerchr3:93808345..93815915hg19UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg387271
hg197271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597015
Supporting Variants
SamplesHG01248
Known GenesNSUN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11069706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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