A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893444



Internal ID19184264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21352381..21497015hg38UCSC Ensembl
Outerchr22:21352381..21497015hg38UCSC Ensembl
Innerchr22:21706670..21851304hg19UCSC Ensembl
Outerchr22:21706670..21851304hg19UCSC Ensembl
Innerchr22:20036670..20181304hg18UCSC Ensembl
Outerchr22:20036670..20181304hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38144635
hg19144635
hg18144635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792489
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893444
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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