A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997597



Internal ID7063936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:89870767..89875106hg38UCSC Ensembl
Outerchr6:90580486..90584825hg19UCSC Ensembl
Outerchr6:90637207..90641546hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg383073
hg193073
hg183073
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565080
SamplesHuRef
Known GenesCASP8AP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997597
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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