A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13161533



Internal ID2270691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33733505..33734233hg38UCSC Ensembl
Innerchr8:33733528..33734211hg38UCSC Ensembl
Outerchr8:33733483..33734256hg38UCSC Ensembl
chr8:33591023..33591751hg19UCSC Ensembl
Innerchr8:33591046..33591729hg19UCSC Ensembl
Outerchr8:33591001..33591774hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616842
Supporting Variants
SamplesHG02028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13161533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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