A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637767



Internal ID6677868
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365543, essv15365544, essv15365545, essv15365541, essv15365542
SamplesHG02108, NA20522, HG03237, NA20756, HG00311
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637767
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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