A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365545



Internal ID5367361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6786788..6838576hg38UCSC Ensembl
Innerchr16:6786808..6838556hg38UCSC Ensembl
Outerchr16:6786768..6838596hg38UCSC Ensembl
chr16:6836789..6888577hg19UCSC Ensembl
Innerchr16:6836809..6888557hg19UCSC Ensembl
Outerchr16:6836769..6888597hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3851789
hg1951789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637767
Supporting Variants
SamplesNA20756
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365545
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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