A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660028



Internal ID9579447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83210030..83211076hg38UCSC Ensembl
chr16:83243635..83244681hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6005657, essv6215693, essv6175866, essv6483801, essv5497066
SamplesHG00186, HG00269, HG00315, HG00325, HG00263
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660028
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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