A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192575



Internal ID447404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48055293..48055854hg38UCSC Ensembl
Innerchr8:48055337..48055811hg38UCSC Ensembl
Outerchr8:48055250..48055898hg38UCSC Ensembl
chr8:48967853..48968414hg19UCSC Ensembl
Innerchr8:48967897..48968371hg19UCSC Ensembl
Outerchr8:48967810..48968458hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617108
Supporting Variants
SamplesHG00140
Known GenesUBE2V2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192575
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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