A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790744



Internal ID18819639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40619338..40820761hg38UCSC Ensembl
Innerchr13:41193475..41394897hg19UCSC Ensembl
Innerchr13:40091475..40292897hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38201424
hg19201423
hg18201423
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892332
Supporting Variants
Samples
Known GenesFOXO1, MIR320D1, MIR621, MRPS31, SLC25A15, TPTE2P5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=50
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790744
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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