A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638568



Internal ID7025353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47800611..47818220hg38UCSC Ensembl
Innerchr16:47800615..47818216hg38UCSC Ensembl
Outerchr16:47800607..47818224hg38UCSC Ensembl
chr16:47834522..47852131hg19UCSC Ensembl
Innerchr16:47834526..47852127hg19UCSC Ensembl
Outerchr16:47834518..47852135hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3817610
hg1917610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15472466, essv15472465
SamplesNA18628, HG00478
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638568
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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