A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6219443



Internal ID9196846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:32157300..32159406hg38UCSC Ensembl
Outerchr8:32156829..32159776hg38UCSC Ensembl
Innerchr8:32014816..32016922hg19UCSC Ensembl
Outerchr8:32014345..32017292hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657877
Supporting Variants
SamplesHG00270
Known GenesNRG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6219443
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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