A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618221



Internal ID7005104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102384734..102394524hg38UCSC Ensembl
Innerchr8:102384789..102394469hg38UCSC Ensembl
Outerchr8:102384679..102394579hg38UCSC Ensembl
chr8:103396962..103406752hg19UCSC Ensembl
Innerchr8:103397017..103406697hg19UCSC Ensembl
Outerchr8:103396907..103406807hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg389791
hg199791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13269772
SamplesHG00637
Known GenesUBR5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618221
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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