A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637784



Internal ID6677885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6992384..7011681hg38UCSC Ensembl
Innerchr16:6992534..7011531hg38UCSC Ensembl
Outerchr16:6992234..7011831hg38UCSC Ensembl
chr16:7042385..7061682hg19UCSC Ensembl
Innerchr16:7042535..7061532hg19UCSC Ensembl
Outerchr16:7042235..7061832hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819298
hg1919298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365812, essv15365810, essv15365811
SamplesHG01589, HG03237, HG00311
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637784
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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