A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788819



Internal ID18820251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24009046..24601506hg38UCSC Ensembl
Innerchr22:24405492..24997473hg19UCSC Ensembl
Innerchr22:22735492..23327473hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38592461
hg19591982
hg18591982
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893463
Supporting Variants
Samples
Known GenesADORA2A, ADORA2A-AS1, CABIN1, FAM211B, GGT1, GGT5, GUCD1, POM121L9P, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=104
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788819
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