A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792983



Internal ID19165988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19470889..20343372hg38UCSC Ensembl
Innerchr22:19458412..20330895hg19UCSC Ensembl
Innerchr22:17838412..18710895hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38872484
hg19872484
hg18872484
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893434
Supporting Variants
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
CommentsNumber of probes=265
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792983
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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