A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15482307



Internal ID3583271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55764978..55788511hg38UCSC Ensembl
chr16:55798890..55822423hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3823534
hg1923534
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638687
Supporting Variants
SamplesHG03168
Known GenesCES1P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15482307
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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