A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13219217



Internal ID5121272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69254595..69271440hg38UCSC Ensembl
Innerchr8:69254611..69271424hg38UCSC Ensembl
Outerchr8:69254579..69271456hg38UCSC Ensembl
chr8:70166830..70183675hg19UCSC Ensembl
Innerchr8:70166846..70183659hg19UCSC Ensembl
Outerchr8:70166814..70183691hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3816846
hg1916846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617546
Supporting Variants
SamplesNA18563
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13219217
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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