A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638913



Internal ID6679010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68805446..68844072hg38UCSC Ensembl
chr16:68839349..68877975hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3838627
hg1938627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501772
SamplesNA19092
Known GenesCDH1, TANGO6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638913
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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