A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6052543



Internal ID9398560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55761204..55789010hg38UCSC Ensembl
Outerchr16:55760833..55789380hg38UCSC Ensembl
Innerchr16:55795116..55822922hg19UCSC Ensembl
Outerchr16:55794745..55823292hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3828548
hg1928548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661656
Supporting Variants
SamplesNA18602
Known GenesCES1P1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6052543
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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