A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364811



Internal ID5366627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6629395..6820355hg38UCSC Ensembl
Innerchr16:6629445..6820305hg38UCSC Ensembl
Outerchr16:6629301..6820449hg38UCSC Ensembl
chr16:6679396..6870356hg19UCSC Ensembl
Innerchr16:6679446..6870306hg19UCSC Ensembl
Outerchr16:6679302..6870450hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38190961
hg19190961
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637755
Supporting Variants
SamplesHG00311
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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