A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1270304



Internal ID12086742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18865249..18865299hg38UCSC Ensembl
chr8:18722759..18722809hg19UCSC Ensembl
chr8:18767039..18767089hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4269160
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1270304
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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