A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666663



Internal ID9932768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28911555..28914060hg38UCSC Ensembl
Outerchr8:28911398..28914213hg38UCSC Ensembl
Innerchr8:28769072..28771577hg19UCSC Ensembl
Outerchr8:28768915..28771730hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg382816
hg192816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6029132, essv5769719
SamplesHG00653, HG00436
Known GenesHMBOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666663
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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