A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792450



Internal ID19182355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31990503..32211736hg38UCSC Ensembl
Innerchr16:32001824..32223057hg19UCSC Ensembl
Innerchr16:31909325..32130558hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38221234
hg19221234
hg18221234
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892844
Supporting Variants
Samples
Known GenesHERC2P4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792450
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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