A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv511e199



Internal ID20123813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83774864..83775503hg38UCSC Ensembl
chr16:83808469..83809108hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662083, esv2666182
SamplesNA19012, NA18951, NA18530, HG00464, HG00736, HG00463, HG01188, HG00651, NA18624, NA18576, HG00692, NA19725, HG00653, NA18572, NA19716, HG00559, NA19005, HG00560, HG01069, HG00513, NA19720, NA19074, NA18606, HG01137, NA18599, NA19078, NA18614, NA18944, NA19717, HG01108, NA18610, NA18532, NA19007
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv511e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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