A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6172675



Internal ID9306478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20224308..20225503hg38UCSC Ensembl
chr8:20081819..20083014hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663510
Supporting Variants
SamplesNA18489
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6172675
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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