A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790193



Internal ID19171109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32128300..32585868hg38UCSC Ensembl
Innerchr16:32139621..32597189hg19UCSC Ensembl
Innerchr16:32047122..32504690hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38457569
hg19457569
hg18457569
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892833
Supporting Variants
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=159
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790193
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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