A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618890



Internal ID7005772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133511981..133518049hg38UCSC Ensembl
Innerchr8:133512007..133518024hg38UCSC Ensembl
Outerchr8:133511956..133518075hg38UCSC Ensembl
chr8:134524224..134530292hg19UCSC Ensembl
Innerchr8:134524250..134530267hg19UCSC Ensembl
Outerchr8:134524199..134530318hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg386069
hg196069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13338114
SamplesHG03565
Known GenesST3GAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618890
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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