A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789701



Internal ID19172788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42912215..43146477hg38UCSC Ensembl
Innerchr13:43486351..43720613hg19UCSC Ensembl
Innerchr13:42384351..42618613hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38234263
hg19234263
hg18234263
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892335
Supporting Variants
Samples
Known GenesDNAJC15, EPSTI1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=82
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789701
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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