A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1448451



Internal ID12264887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518534..197518857hg38UCSC Ensembl
chr3:197245405..197245728hg19UCSC Ensembl
chr3:198729802..198730125hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3990582
SamplesHuRef
Known GenesBDH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1448451
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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