A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793050



Internal ID18823542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22657560..23995877hg38UCSC Ensembl
Innerchr22:23000030..24338071hg19UCSC Ensembl
Innerchr22:21330030..22668071hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg381338318
hg191338042
hg181338042
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893457
Supporting Variants
Samples
Known GenesBCR, C22orf15, C22orf43, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FBXW4P1, GNAZ, GSTT2, GSTT2B, GUSBP11, IGLL1, IGLL5, LOC284889, MIF, MIR650, MMP11, RAB36, RGL4, RTDR1, SLC2A11, SMARCB1, VPREB3, ZDHHC8P1, ZNF70
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=372
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793050
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