A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781744



Internal ID19163759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:190014817..190021267hg38UCSC Ensembl
Innerchr3:189732606..189739056hg19UCSC Ensembl
Innerchr3:191215300..191221750hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386451
hg196451
hg186451
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893842
Supporting Variants
Samples
Known GenesLEPREL1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781744
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