A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564504



Internal ID6689200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199342704..199345420hg38UCSC Ensembl
Outerchr2:200207427..200210143hg19UCSC Ensembl
Outerchr2:199915672..199918388hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382717
hg192717
hg182717
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993308
Supporting Variants
SamplesHuRef
Known GenesSATB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564504
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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