A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1436400



Internal ID12252836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518398..197518506hg38UCSC Ensembl
chr3:197245269..197245377hg19UCSC Ensembl
chr3:198729666..198729774hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38109
hg19109
hg18109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4041441
SamplesHuRef
Known GenesBDH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1436400
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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