A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618077



Internal ID7004960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94460599..94464429hg38UCSC Ensembl
Innerchr8:94460649..94464379hg38UCSC Ensembl
Outerchr8:94460549..94464479hg38UCSC Ensembl
chr8:95472827..95476657hg19UCSC Ensembl
Innerchr8:95472877..95476607hg19UCSC Ensembl
Outerchr8:95472777..95476707hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383831
hg193831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13260497, essv13260498, essv13260499
SamplesHG02716, HG03123, HG02594
Known GenesRAD54B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618077
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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