A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15478752



Internal ID4071553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53416669..53427027hg38UCSC Ensembl
Innerchr16:53417169..53426527hg38UCSC Ensembl
Outerchr16:53415669..53428027hg38UCSC Ensembl
chr16:53450581..53460939hg19UCSC Ensembl
Innerchr16:53451081..53460439hg19UCSC Ensembl
Outerchr16:53449581..53461939hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3810359
hg1910359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638648
Supporting Variants
SamplesHG03705
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15478752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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