A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11214418



Internal ID1216234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:165786388..165791442hg38UCSC Ensembl
Innerchr3:165786420..165791411hg38UCSC Ensembl
Outerchr3:165786357..165791474hg38UCSC Ensembl
chr3:165504176..165509230hg19UCSC Ensembl
Innerchr3:165504208..165509199hg19UCSC Ensembl
Outerchr3:165504145..165509262hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg385055
hg195055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598513
Supporting Variants
SamplesHG03788
Known GenesBCHE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11214418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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