A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1050414



Internal ID12213539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:456585..456958hg38UCSC Ensembl
chr20:437229..437602hg19UCSC Ensembl
chr20:385229..385602hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38374
hg19374
hg18374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3595246
SamplesHuRef
Known GenesTBC1D20
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1050414
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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