A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617499



Internal ID7004384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67305836..67332323hg38UCSC Ensembl
Innerchr8:67305876..67332284hg38UCSC Ensembl
Outerchr8:67305797..67332363hg38UCSC Ensembl
chr8:68218071..68244558hg19UCSC Ensembl
Innerchr8:68218111..68244519hg19UCSC Ensembl
Outerchr8:68218032..68244598hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3826488
hg1926488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13216291
SamplesNA12399
Known GenesARFGEF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617499
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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