A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545801



Internal ID5547617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84214895..84221460hg38UCSC Ensembl
Innerchr16:84214902..84221454hg38UCSC Ensembl
Outerchr16:84214889..84221467hg38UCSC Ensembl
chr16:84248501..84255066hg19UCSC Ensembl
Innerchr16:84248508..84255060hg19UCSC Ensembl
Outerchr16:84248495..84255073hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg386566
hg196566
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639415
Supporting Variants
SamplesNA20800
Known GenesKCNG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer