A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639414



Internal ID6679507
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545799
SamplesHG03009
Known GenesADAD2, DNAAF1, KCNG4, TAF1C, WFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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