A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673092



Internal ID9592511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28485990..28486923hg38UCSC Ensembl
Outerchr16:28485953..28486973hg38UCSC Ensembl
Innerchr16:28497311..28498244hg19UCSC Ensembl
Outerchr16:28497274..28498294hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5499250
SamplesHG00154
Known GenesCLN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673092
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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