A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789955



Internal ID18825909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:190075998..191094501hg38UCSC Ensembl
Innerchr3:189793787..190812290hg19UCSC Ensembl
Innerchr3:191276481..192294984hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381018504
hg191018504
hg181018504
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893843
Supporting Variants
Samples
Known GenesCLDN1, CLDN16, GMNC, IL1RAP, LEPREL1, SNAR-I, TMEM207
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=273
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789955
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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