A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676408



Internal ID9595827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:41683341..41684497hg38UCSC Ensembl
Outerchr8:41683184..41684650hg38UCSC Ensembl
Innerchr8:41540859..41542015hg19UCSC Ensembl
Outerchr8:41540702..41542168hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381467
hg191467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6019616, essv5861657
SamplesNA18570, NA18559
Known GenesANK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676408
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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