A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15440055



Internal ID5441871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28566843..28596255hg38UCSC Ensembl
chr16:28578164..28607576hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3829413
hg1929413
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638337
Supporting Variants
SamplesHG03854
Known GenesCCDC101, SULT1A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15440055
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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