A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666058



Internal ID9932163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33560668..33562656hg38UCSC Ensembl
chr8:33418186..33420174hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381989
hg191989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5869463, essv6382317
SamplesHG00270, NA20770
Known GenesRNF122
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666058
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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