A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662947



Internal ID9582366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11717638..11718036hg38UCSC Ensembl
chr16:11811494..11811892hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6554439, essv6263591, essv6270791, essv5414530, essv5614941, essv6189059
SamplesNA19445, HG01173, NA19102, NA19376, NA19394, NA19434
Known GenesTXNDC11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662947
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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