A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792672



Internal ID18822337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17214813..17405801hg38UCSC Ensembl
Innerchr22:17695703..17885697hg19UCSC Ensembl
Innerchr22:16075703..16265697hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38190989
hg19189995
hg18189995
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893427
Supporting Variants
Samples
Known GenesCECR1, CECR3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=47
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792672
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