A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785221



Internal ID18831946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21981242..22219245hg38UCSC Ensembl
Innerchr22:22335639..22573637hg19UCSC Ensembl
Innerchr22:20665639..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38238004
hg19237999
hg18237999
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893445
Supporting Variants
Samples
Known GenesTOP3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=185
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785221
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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