A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792492



Internal ID18831639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17600825..17678777hg38UCSC Ensembl
Innerchr22:18083591..18161543hg19UCSC Ensembl
Innerchr22:16463591..16541543hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3877953
hg1977953
hg1877953
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893429
Supporting Variants
Samples
Known GenesATP6V1E1, BCL2L13
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792492
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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