A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661011



Internal ID9927116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28927758..28932163hg38UCSC Ensembl
chr8:28785275..28789680hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg384406
hg194406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6042053
SamplesNA19399
Known GenesHMBOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661011
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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