A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5518905



Internal ID8496308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6933348..6940517hg38UCSC Ensembl
chr8:6790870..6798039hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387170
hg197170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662366
Supporting Variants
SamplesHG00189
Known GenesDEFA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5518905
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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