A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676703



Internal ID9942808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:50174010..50176686hg38UCSC Ensembl
Outerchr16:50173853..50176839hg38UCSC Ensembl
Innerchr16:50207921..50210597hg19UCSC Ensembl
Outerchr16:50207764..50210750hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg382987
hg192987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5681038, essv6185298
SamplesHG00702, HG00656
Known GenesPAPD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676703
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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