A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788005



Internal ID18832183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25336730..25509701hg38UCSC Ensembl
Innerchr22:25732697..25905668hg19UCSC Ensembl
Innerchr22:24062697..24235668hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38172972
hg19172972
hg18172972
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893465
Supporting Variants
Samples
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788005
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