A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501238



Internal ID5503054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66570632..66577424hg38UCSC Ensembl
chr16:66604535..66611327hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg386793
hg196793
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638871
Supporting Variants
SamplesNA19658
Known GenesCKLF-CMTM1, CMTM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501238
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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