A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009779



Internal ID7074073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:27717363..27718017hg38UCSC Ensembl
Outerchr16:27728684..27729338hg19UCSC Ensembl
Outerchr16:27636185..27636839hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388169
hg198169
hg188169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565705
SamplesHuRef
Known GenesKIAA0556
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009779
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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