A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792620



Internal ID19164499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092442..46208165hg38UCSC Ensembl
Innerchr17:44169808..44285531hg19UCSC Ensembl
Innerchr17:41525626..41641308hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38115724
hg19115724
hg18115683
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893022
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792620
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