A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6593052



Internal ID9603743
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 Flag1
Merged StatusS
Merged Variantsesv2658364
Supporting Variants
SamplesNA19247
Known GenesMTMR9, SLC35G5, TDH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6593052
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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