A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545823



Internal ID5547639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84253360..84390219hg38UCSC Ensembl
chr16:84286966..84423825hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38136860
hg19136860
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639418
Supporting Variants
SamplesNA19031
Known GenesATP2C2, WFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545823
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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