A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639412



Internal ID6679505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84170074..84221406hg38UCSC Ensembl
Innerchr16:84170111..84221369hg38UCSC Ensembl
Outerchr16:84170037..84221443hg38UCSC Ensembl
chr16:84203680..84255012hg19UCSC Ensembl
Innerchr16:84203717..84254975hg19UCSC Ensembl
Outerchr16:84203643..84255049hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3851333
hg1951333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545797, essv15545796
SamplesNA21123, HG03009
Known GenesADAD2, DNAAF1, KCNG4, TAF1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639412
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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