A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793052



Internal ID18826989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15947882..16027568hg38UCSC Ensembl
Innerchr17:15851196..15930882hg19UCSC Ensembl
Innerchr17:15791921..15871607hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3879687
hg1979687
hg1879687
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892973
Supporting Variants
Samples
Known GenesADORA2B, TTC19, ZSWIM7
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793052
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