A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787895



Internal ID19167801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55809340..55830540hg38UCSC Ensembl
Innerchr16:55843252..55864452hg19UCSC Ensembl
Innerchr16:54400753..54421953hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3821201
hg1921201
hg1821201
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892862
Supporting Variants
Samples
Known GenesCES1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787895
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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