A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554862



Internal ID18755938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80601634..80602416hg38UCSC Ensembl
Outerchr17:80601483..80602597hg38UCSC Ensembl
Innerchr17:78575434..78576216hg19UCSC Ensembl
Outerchr17:78575283..78576397hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753609
Samples
Known GenesRPTOR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554862
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer