A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006770



Internal ID7071862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:153946047..153949792hg38UCSC Ensembl
Outerchr5:153325607..153329352hg19UCSC Ensembl
Outerchr5:153305800..153309545hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383750
hg193750
hg183750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563596
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006770
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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