A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669048



Internal ID9935153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46942857..46947410hg38UCSC Ensembl
Outerchr8:46942820..46947460hg38UCSC Ensembl
Innerchr8:47854479..47859032hg19UCSC Ensembl
Outerchr8:47854442..47859082hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg384641
hg194641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6093811
SamplesNA19072
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669048
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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