A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338126



Internal ID6641719
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618898
Supporting Variants
SamplesNA20799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338126
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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