A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790400



Internal ID19171310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18223945..18525609hg38UCSC Ensembl
Innerchr14:19000422..19302086hg19UCSC Ensembl
Innerchr14:18070422..18372086hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38301665
hg19301665
hg18301665
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892456
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=75
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790400
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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