A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993737



Internal ID6729694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:624323..635048hg38UCSC Ensembl
Outerchr4:618112..628837hg19UCSC Ensembl
Outerchr4:608112..618837hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3810726
hg1910726
hg1810726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563701
SamplesHuRef
Known GenesPDE6B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993737
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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