A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789720



Internal ID19176421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:204201..464920hg38UCSC Ensembl
Innerchr9:204201..464920hg19UCSC Ensembl
Innerchr9:194201..454920hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38260720
hg19260720
hg18260720
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891501
Supporting Variants
Samples
Known GenesC9orf66, DOCK8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=159
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789720
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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