A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789350



Internal ID18814660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46772158..46817818hg38UCSC Ensembl
Innerchr13:47346293..47391953hg19UCSC Ensembl
Innerchr13:46244294..46289954hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3845661
hg1945661
hg1845661
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892341
Supporting Variants
Samples
Known GenesESD
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=29
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789350
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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