A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29989



Internal ID12954869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52992698..53004770hg38UCSC Ensembl
Innerchr3:53026714..53038786hg19UCSC Ensembl
Innerchr3:53001754..53013826hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3812073
hg1912073
hg1812073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84228
SamplesHuRef
Known GenesSFMBT1
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv29989
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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