A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15567781



Internal ID5569597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88956113..88958120hg38UCSC Ensembl
Innerchr16:88956132..88958102hg38UCSC Ensembl
Outerchr16:88956095..88958139hg38UCSC Ensembl
chr16:89022521..89024528hg19UCSC Ensembl
Innerchr16:89022540..89024510hg19UCSC Ensembl
Outerchr16:89022503..89024547hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382008
hg192008
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639564
Supporting Variants
SamplesNA18611
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15567781
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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