A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785874



Internal ID18820718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43018324..43040163hg38UCSC Ensembl
Innerchr22:43414330..43436169hg19UCSC Ensembl
Innerchr22:41744274..41766113hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3821840
hg1921840
hg1821840
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893488
Supporting Variants
Samples
Known GenesTTLL1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785874
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