A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364740



Internal ID5366556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6137416..6151443hg38UCSC Ensembl
Innerchr16:6137442..6151418hg38UCSC Ensembl
Outerchr16:6137391..6151469hg38UCSC Ensembl
chr16:6187417..6201444hg19UCSC Ensembl
Innerchr16:6187443..6201419hg19UCSC Ensembl
Outerchr16:6187392..6201470hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3814028
hg1914028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637740
Supporting Variants
SamplesHG02156
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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