A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275264



Internal ID1484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17916210..17920863hg38UCSC Ensembl
Outerchr22:17915441..17921877hg38UCSC Ensembl
Innerchr22:18398976..18403629hg19UCSC Ensembl
Outerchr22:18398207..18404643hg19UCSC Ensembl
Innerchr22:16778976..16783629hg18UCSC Ensembl
Outerchr22:16778207..16784643hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386437
hg196437
hg186437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585520
Samples
Known GenesMICAL3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275264
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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