A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790079



Internal ID19178525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49610205..49761034hg38UCSC Ensembl
Innerchr22:50003853..50154682hg19UCSC Ensembl
Innerchr22:48389857..48540686hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38150830
hg19150830
hg18150830
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893498
Supporting Variants
Samples
Known GenesC22orf34
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=44
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790079
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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