A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6124903



Internal ID9270439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67305855..67332306hg38UCSC Ensembl
Outerchr8:67305818..67332356hg38UCSC Ensembl
Innerchr8:68218090..68244541hg19UCSC Ensembl
Outerchr8:68218053..68244591hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3826539
hg1926539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664076
Supporting Variants
SamplesNA12399
Known GenesARFGEF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6124903
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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