A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637743



Internal ID6677844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6224382..6227059hg38UCSC Ensembl
Innerchr16:6224432..6227009hg38UCSC Ensembl
Outerchr16:6224267..6227174hg38UCSC Ensembl
chr16:6274383..6277060hg19UCSC Ensembl
Innerchr16:6274433..6277010hg19UCSC Ensembl
Outerchr16:6274268..6277175hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382678
hg192678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364749
SamplesHG00607
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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