A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11315061



Internal ID3578364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:983183..986434hg38UCSC Ensembl
Innerchr4:983233..986384hg38UCSC Ensembl
Outerchr4:983076..986541hg38UCSC Ensembl
chr4:976971..980222hg19UCSC Ensembl
Innerchr4:977021..980172hg19UCSC Ensembl
Outerchr4:976864..980329hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383252
hg193252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599385
Supporting Variants
SamplesHG03166
Known GenesSLC26A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11315061
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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