A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997544



Internal ID7063883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175481192..175489758hg38UCSC Ensembl
Outerchr2:176345920..176354486hg19UCSC Ensembl
Outerchr2:176054166..176062732hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg388567
hg198567
hg188567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91e180
Supporting Variantsessv3565193
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997544
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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