A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893852



Internal ID18837986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197204950..197333165hg38UCSC Ensembl
Outerchr3:197204950..197333165hg38UCSC Ensembl
Innerchr3:196931821..197060036hg19UCSC Ensembl
Outerchr3:196931821..197060036hg19UCSC Ensembl
Innerchr3:198416218..198544433hg18UCSC Ensembl
Outerchr3:198416218..198544433hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38128216
hg19128216
hg18128216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789510
Samples
Known GenesDLG1, DLG1-AS1, MIR4797
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893852
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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