A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3595246



Internal ID12166622
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1050414
Supporting Variants
SamplesHuRef
Known GenesTBC1D20
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3595246
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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