A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792767



Internal ID18817078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118081382..118161527hg38UCSC Ensembl
Innerchr11:117952097..118032242hg19UCSC Ensembl
Innerchr11:117457307..117537452hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3880146
hg1980146
hg1880146
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892103
Supporting Variants
Samples
Known GenesSCN4B, TMPRSS4, TMPRSS4-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=39
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792767
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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