A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15404953



Internal ID5500254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20533815..20542681hg38UCSC Ensembl
chr16:20545137..20554003hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388867
hg198867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638145
Supporting Variants
SamplesNA18985
Known GenesACSM2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15404953
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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