A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647125



Internal ID7033866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44215875..44239914hg38UCSC Ensembl
chr21:45635758..45659797hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3824040
hg1924040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16330345
SamplesHG02734
Known GenesICOSLG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647125
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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