A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15760064



Internal ID2213018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80921020..80944636hg38UCSC Ensembl
chr17:78894820..78918436hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3823617
hg1923617
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641386
Supporting Variants
SamplesHG01989
Known GenesRPTOR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15760064
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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