A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893434



Internal ID18837568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19470889..20343372hg38UCSC Ensembl
Outerchr22:19470889..20343372hg38UCSC Ensembl
Innerchr22:19458412..20330895hg19UCSC Ensembl
Outerchr22:19458412..20330895hg19UCSC Ensembl
Innerchr22:17838412..18710895hg18UCSC Ensembl
Outerchr22:17838412..18710895hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38872484
hg19872484
hg18872484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792983
Samples
Known GenesARVCF, C22orf29, CDC45, CLDN5, COMT, DGCR6L, DGCR8, GNB1L, GP1BB, LINC00895, LINC00896, LOC284865, LOC388849, LOC729444, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR6816, RANBP1, RTN4R, SEPT5, SEPT5-GP1BB, TANGO2, TBX1, TRMT2A, TXNRD2, UFD1L, ZDHHC8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893434
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer