A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788687



Internal ID19173075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66756824..66808318hg38UCSC Ensembl
Innerchr1:67222507..67274001hg19UCSC Ensembl
Innerchr1:66995095..67046589hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3851495
hg1951495
hg1851495
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893623
Supporting Variants
Samples
Known GenesINSL5, TCTEX1D1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788687
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