A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319373



Internal ID2566626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36140606..36213380hg38UCSC Ensembl
chr21:37512904..37585678hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3872775
hg1972775
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646963
Supporting Variants
SamplesHG02277
Known GenesCBR3, CBR3-AS1, DOPEY2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319373
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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