A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789896



Internal ID18822259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24289365..24368161hg19UCSC Ensembl
Innerchr22:22619365..22698161hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg1978797
hg1878797
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893452
Supporting Variants
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B, GSTTP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789896
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