A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790490



Internal ID19173291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32593089..34068162hg38UCSC Ensembl
Innerchr16:32604410..33870629hg19UCSC Ensembl
Innerchr16:32511911..33778130hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381475074
hg191266220
hg181266220
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892840
Supporting Variants
Samples
Known GenesLOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=275
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790490
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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