A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545799



Internal ID5547615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84176251..84352273hg38UCSC Ensembl
Innerchr16:84176251..84352273hg38UCSC Ensembl
Outerchr16:84175751..84352773hg38UCSC Ensembl
chr16:84209857..84385879hg19UCSC Ensembl
Innerchr16:84209857..84385879hg19UCSC Ensembl
Outerchr16:84209357..84386379hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38176023
hg19176023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639414
Supporting Variants
SamplesHG03009
Known GenesADAD2, DNAAF1, KCNG4, TAF1C, WFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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