A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788652



Internal ID18822832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69687512..69844258hg38UCSC Ensembl
Innerchr16:69721415..69878161hg19UCSC Ensembl
Innerchr16:68278916..68435662hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38156747
hg19156747
hg18156747
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892878
Supporting Variants
Samples
Known GenesNFAT5, NOB1, NQO1, WWP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788652
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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