A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638544



Internal ID7025329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46866759..46867318hg38UCSC Ensembl
Innerchr16:46866803..46867274hg38UCSC Ensembl
Outerchr16:46866715..46867362hg38UCSC Ensembl
chr16:46900671..46901230hg19UCSC Ensembl
Innerchr16:46900715..46901186hg19UCSC Ensembl
Outerchr16:46900627..46901274hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472396, essv15472395, essv15472394, essv15472397, essv15472393, essv15472392
SamplesHG03885, HG03685, HG03740, HG03745, HG04239, HG03856
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638544
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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