A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790689



Internal ID19162286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25439547hg38UCSC Ensembl
Innerchr22:25664408..25835514hg19UCSC Ensembl
Innerchr22:23994408..24165514hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38171107
hg19171107
hg18171107
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893466
Supporting Variants
Samples
Known GenesIGLL3P, LRP5L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790689
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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