A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657437



Internal ID9923542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69976206..70203322hg38UCSC Ensembl
chr16:70010109..70237225hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38227117
hg19227117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6308785, essv5851124
SamplesNA18614, NA19321
Known GenesCLEC18C, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657437
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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