A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644941



Internal ID7031692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:137857..261536hg38UCSC Ensembl
chr20:118498..242177hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38123680
hg19123680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv770e214
Supporting Variantsessv16107555
SamplesHG04015
Known GenesDEFB126, DEFB127, DEFB128, DEFB129, DEFB132
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644941
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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