A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637748



Internal ID6677849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6465301..6478597hg38UCSC Ensembl
Innerchr16:6465301..6478597hg38UCSC Ensembl
Outerchr16:6464801..6479097hg38UCSC Ensembl
chr16:6515302..6528598hg19UCSC Ensembl
Innerchr16:6515302..6528598hg19UCSC Ensembl
Outerchr16:6514802..6529098hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3813297
hg1913297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364801
SamplesHG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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