A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792089



Internal ID19163432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31990503..32485695hg38UCSC Ensembl
Innerchr16:32001824..32497016hg19UCSC Ensembl
Innerchr16:31909325..32404517hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38495193
hg19495193
hg18495193
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=169
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792089
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer