A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618911



Internal ID7005793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134910612..134915656hg38UCSC Ensembl
Innerchr8:134910640..134915629hg38UCSC Ensembl
Outerchr8:134910585..134915684hg38UCSC Ensembl
chr8:135922855..135927899hg19UCSC Ensembl
Innerchr8:135922883..135927872hg19UCSC Ensembl
Outerchr8:135922828..135927927hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385045
hg195045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1420e214
Supporting Variantsessv13338817
SamplesNA20757
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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