A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006960



Internal ID7072053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3711943..3717218hg38UCSC Ensembl
Outerchr19:3711941..3717216hg19UCSC Ensembl
Outerchr19:3662941..3668216hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385276
hg195276
hg185276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565442
SamplesHuRef
Known GenesTJP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006960
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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