A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13216300



Internal ID3150114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67544725..67553614hg38UCSC Ensembl
Innerchr8:67544730..67553609hg38UCSC Ensembl
Outerchr8:67544720..67553619hg38UCSC Ensembl
chr8:68456960..68465849hg19UCSC Ensembl
Innerchr8:68456965..68465844hg19UCSC Ensembl
Outerchr8:68456955..68465854hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg388890
hg198890
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617504
Supporting Variants
SamplesHG02774
Known GenesCPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13216300
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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