A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003096



Internal ID7068204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118415309..118426818hg38UCSC Ensembl
Outerchr2:119172885..119184394hg19UCSC Ensembl
Outerchr2:118889355..118900864hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3811510
hg1911510
hg1811510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565245
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003096
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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