A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991387



Internal ID7077290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:159803790..159805974hg38UCSC Ensembl
Outerchr1:159773580..159775764hg19UCSC Ensembl
Outerchr1:158040204..158042388hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382314
hg192314
hg182314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564917
SamplesHuRef
Known GenesFCRL6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991387
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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