A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780641



Internal ID18821389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17184523..17219394hg38UCSC Ensembl
Innerchr22:17665413..17700284hg19UCSC Ensembl
Innerchr22:16045413..16080284hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3834872
hg1934872
hg1834872
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893425
Supporting Variants
Samples
Known GenesCECR1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780641
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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