A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638533



Internal ID6678630
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15471938, essv15471939, essv15471940
SamplesNA18964, HG00319, HG01841
Known GenesANKRD26P1, SHCBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638533
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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