A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15397966



Internal ID5399782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18557061..18602909hg38UCSC Ensembl
chr16:18568383..18614231hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3845849
hg1945849
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638111
Supporting Variants
SamplesNA19467
Known GenesABCC6P1, NOMO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15397966
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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