A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791900



Internal ID19172837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31990503..32391721hg38UCSC Ensembl
Innerchr16:32001824..32403042hg19UCSC Ensembl
Innerchr16:31909325..32310543hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38401219
hg19401219
hg18401219
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=29
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791900
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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