A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15471940



Internal ID5473756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46517926..46599575hg38UCSC Ensembl
chr16:46551838..46633487hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3881650
hg1981650
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638533
Supporting Variants
SamplesNA18964
Known GenesANKRD26P1, SHCBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15471940
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