A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666116



Internal ID9932221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47378150..47379120hg38UCSC Ensembl
Outerchr8:47378113..47379170hg38UCSC Ensembl
Innerchr8:48290714..48291684hg19UCSC Ensembl
Outerchr8:48290677..48291734hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381058
hg191058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6350271
SamplesNA18487
Known GenesSPIDR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666116
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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