A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788519



Internal ID19162987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:398673..629437hg38UCSC Ensembl
Innerchr9:398673..629437hg19UCSC Ensembl
Innerchr9:388673..619437hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38230765
hg19230765
hg18230765
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891502
Supporting Variants
Samples
Known GenesDOCK8, KANK1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=120
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788519
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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