A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792806



Internal ID18825153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31278415..31706814hg38UCSC Ensembl
Innerchr8:31135931..31564330hg19UCSC Ensembl
Innerchr8:31255473..31683872hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38428400
hg19428400
hg18428400
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891380
Supporting Variants
Samples
Known GenesNRG1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=76
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792806
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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