A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364741



Internal ID5366557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6151306..6207430hg38UCSC Ensembl
Innerchr16:6151306..6207430hg38UCSC Ensembl
Outerchr16:6150806..6207930hg38UCSC Ensembl
chr16:6201307..6257431hg19UCSC Ensembl
Innerchr16:6201307..6257431hg19UCSC Ensembl
Outerchr16:6200807..6257931hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856125
hg1956125
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637741
Supporting Variants
SamplesHG01672
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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