A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618898



Internal ID7005780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133791399..133796639hg38UCSC Ensembl
Innerchr8:133791420..133796619hg38UCSC Ensembl
Outerchr8:133791379..133796660hg38UCSC Ensembl
chr8:134803642..134808882hg19UCSC Ensembl
Innerchr8:134803663..134808862hg19UCSC Ensembl
Outerchr8:134803622..134808903hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385241
hg195241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13338126
SamplesNA20799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618898
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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