A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5822571



Internal ID9019042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:102384752..102394506hg38UCSC Ensembl
Outerchr8:102384715..102394556hg38UCSC Ensembl
Innerchr8:103396980..103406734hg19UCSC Ensembl
Outerchr8:103396943..103406784hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg389842
hg199842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668076
Supporting Variants
SamplesHG00637
Known GenesUBR5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5822571
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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