A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742054



Internal ID18369614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31713740..31714075hg38UCSC Ensembl
Outerchr8:31713670..31714100hg38UCSC Ensembl
Innerchr8:31571256..31571591hg19UCSC Ensembl
Outerchr8:31571186..31571616hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543307
Supporting Variants
Samples
Known GenesNRG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742054
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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