A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993308



Internal ID6729268
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564504
SamplesHuRef
Known GenesSATB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993308
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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