A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658364



Internal ID9924469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11326734..11340002hg38UCSC Ensembl
Outerchr8:11326697..11340052hg38UCSC Ensembl
Innerchr8:11184243..11197511hg19UCSC Ensembl
Outerchr8:11184206..11197561hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3813356
hg1913356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6593052
SamplesNA19247
Known GenesMTMR9, SLC35G5, TDH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658364
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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