A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660712



Internal ID9926817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71835730..71837190hg38UCSC Ensembl
Outerchr8:71835693..71837240hg38UCSC Ensembl
Innerchr8:72747965..72749425hg19UCSC Ensembl
Outerchr8:72747928..72749475hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5665839, essv5881654
SamplesNA19075, NA18953
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660712
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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