A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894171



Internal ID18838554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33585649..33600260hg38UCSC Ensembl
Outerchr5:33585649..33600260hg38UCSC Ensembl
Innerchr5:33585754..33600365hg19UCSC Ensembl
Outerchr5:33585754..33600365hg19UCSC Ensembl
Innerchr5:33621511..33636122hg18UCSC Ensembl
Outerchr5:33621511..33636122hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3814612
hg1914612
hg1814612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789050
Samples
Known GenesADAMTS12
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894171
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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