A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787887



Internal ID18821883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33736804..33775548hg38UCSC Ensembl
Innerchr5:33736909..33775653hg19UCSC Ensembl
Innerchr5:33772666..33811410hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3838745
hg1938745
hg1838745
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894172
Supporting Variants
Samples
Known GenesADAMTS12
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787887
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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