A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637786



Internal ID6677887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7000760..7013908hg38UCSC Ensembl
Innerchr16:7000760..7013908hg38UCSC Ensembl
Outerchr16:7000260..7014408hg38UCSC Ensembl
chr16:7050761..7063909hg19UCSC Ensembl
Innerchr16:7050761..7063909hg19UCSC Ensembl
Outerchr16:7050261..7064409hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3813149
hg1913149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365816, essv15365818, essv15365817
SamplesHG01589, HG03237, HG00311
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637786
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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