A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004519



Internal ID7069616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:99835587..99839115hg38UCSC Ensembl
Outerchr9:102597869..102601397hg19UCSC Ensembl
Outerchr9:101637690..101641218hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg383130
hg193130
hg183130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565441
SamplesHuRef
Known GenesNR4A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004519
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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