A curated catalogue of human genomic structural variation




Variant Details

Variant: esv30005



Internal ID12954885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136481974..136563014hg38UCSC Ensembl
Innerchr9:139376426..139457466hg19UCSC Ensembl
Innerchr9:138496247..138577287hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3881041
hg1981041
hg1881041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84244
SamplesHuRef
Known GenesC9orf163, MIR4673, MIR4674, NOTCH1, SEC16A
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv30005
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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