A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893532



Internal ID18837666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201232852..201351096hg38UCSC Ensembl
Outerchr2:201232852..201351096hg38UCSC Ensembl
Innerchr2:202097575..202215819hg19UCSC Ensembl
Outerchr2:202097575..202215819hg19UCSC Ensembl
Innerchr2:201805820..201924064hg18UCSC Ensembl
Outerchr2:201805820..201924064hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38118245
hg19118245
hg18118245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787683
Samples
Known GenesALS2CR12, CASP8
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893532
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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