A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638912



Internal ID6679009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68770301..68791211hg38UCSC Ensembl
chr16:68804204..68825114hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3820911
hg1920911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501770, essv15501769, essv15501771
SamplesHG00355, HG00331, HG00332
Known GenesCDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638912
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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