A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000418



Internal ID7065548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15536602..15545589hg38UCSC Ensembl
Outerchr19:15647413..15656400hg19UCSC Ensembl
Outerchr19:15508413..15517400hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg388988
hg198988
hg188988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565184
SamplesHuRef
Known GenesCYP4F22
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000418
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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