A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396987



Internal ID15243950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56535875..56535894hg38UCSC Ensembl
Innerchr16:56535871..56535898hg38UCSC Ensembl
Outerchr16:56535852..56535917hg38UCSC Ensembl
chr16:56569787..56569806hg19UCSC Ensembl
Innerchr16:56569783..56569810hg19UCSC Ensembl
Outerchr16:56569764..56569829hg19UCSC Ensembl
chr16:55127288..55127307hg18UCSC Ensembl
Innerchr16:55127311..55127284hg18UCSC Ensembl
Outerchr16:55127265..55127330hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9671558
SamplesNA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396987
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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