A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787575



Internal ID19169737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246026700..246183851hg38UCSC Ensembl
Innerchr1:246190002..246347153hg19UCSC Ensembl
Innerchr1:244256625..244413776hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38157152
hg19157152
hg18157152
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891348
Supporting Variants
Samples
Known GenesSMYD3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=38
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787575
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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