A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501772



Internal ID5503588
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638913
Supporting Variants
SamplesNA19092
Known GenesCDH1, TANGO6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501772
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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