A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545796



Internal ID5547612
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639412
Supporting Variants
SamplesHG03009
Known GenesADAD2, DNAAF1, KCNG4, TAF1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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