A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890770



Internal ID18838386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179301829..179481264hg38UCSC Ensembl
Outerchr5:179301829..179508664hg38UCSC Ensembl
Innerchr5:178728830..178908265hg19UCSC Ensembl
Outerchr5:178728830..178935665hg19UCSC Ensembl
Innerchr5:178661436..178840871hg18UCSC Ensembl
Outerchr5:178661436..178868271hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38206836
hg19206836
hg18206836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788720, essv25789689
Samples
Known GenesADAMTS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890770
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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