A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563778



Internal ID7034878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51374072..51378972hg38UCSC Ensembl
Outerchr20:49990609..49995509hg19UCSC Ensembl
Outerchr20:49424016..49428916hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384901
hg194901
hg184901
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996964
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563778
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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