A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575944



Internal ID6700640
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005839
Supporting Variants
SamplesHuRef
Known GenesRPTOR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575944
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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