A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15486788



Internal ID567006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58169500..58171425hg38UCSC Ensembl
Innerchr16:58169500..58171425hg38UCSC Ensembl
Outerchr16:58169228..58171698hg38UCSC Ensembl
chr16:58203404..58205329hg19UCSC Ensembl
Innerchr16:58203404..58205329hg19UCSC Ensembl
Outerchr16:58203132..58205602hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381926
hg191926
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638722
Supporting Variants
SamplesHG00250
Known GenesCSNK2A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15486788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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