A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15480758



Internal ID5397826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54731169..54745735hg38UCSC Ensembl
Innerchr16:54731669..54745235hg38UCSC Ensembl
Outerchr16:54730169..54746735hg38UCSC Ensembl
chr16:54765081..54779647hg19UCSC Ensembl
Innerchr16:54765581..54779147hg19UCSC Ensembl
Outerchr16:54764081..54780647hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3814567
hg1914567
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638673
Supporting Variants
SamplesNA18942
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15480758
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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