A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992196



Internal ID6728158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64225062..64234883hg38UCSC Ensembl
Outerchr11:63992534..64002355hg19UCSC Ensembl
Outerchr11:63749110..63758931hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg389822
hg199822
hg189822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565564
SamplesHuRef
Known GenesDNAJC4, NUDT22, TRPT1, VEGFB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992196
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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