A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798383



Internal ID19162291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:216521..434561hg38UCSC Ensembl
Innerchr20:197162..415205hg19UCSC Ensembl
Innerchr20:145162..363205hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38218041
hg19218044
hg18218044
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893263
Supporting Variants
Samples
Known GenesC20orf96, DEFB129, DEFB132, NRSN2, RBCK1, SOX12, TRIB3, ZCCHC3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=68
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798383
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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