A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005839



Internal ID6717959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80565542..80565542hg38UCSC Ensembl
chr17:78539342..78539342hg19UCSC Ensembl
chr17:76153937..76153937hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575944
SamplesHuRef
Known GenesRPTOR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005839
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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