A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501387



Internal ID802551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67053264..67054800hg38UCSC Ensembl
Innerchr16:67053290..67054774hg38UCSC Ensembl
Outerchr16:67053238..67054826hg38UCSC Ensembl
chr16:67087167..67088703hg19UCSC Ensembl
Innerchr16:67087193..67088677hg19UCSC Ensembl
Outerchr16:67087141..67088729hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381537
hg191537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638877
Supporting Variants
SamplesHG00380
Known GenesCBFB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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