A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660416



Internal ID9926521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113298657..113312376hg38UCSC Ensembl
chr8:114310886..114324605hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3813720
hg1913720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6016124, essv5667374
SamplesHG00607, HG00581
Known GenesCSMD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660416
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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