A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107553



Internal ID6061966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:137830..261754hg38UCSC Ensembl
Innerchr20:137980..261604hg38UCSC Ensembl
Outerchr20:137680..261904hg38UCSC Ensembl
chr20:118471..242395hg19UCSC Ensembl
Innerchr20:118621..242245hg19UCSC Ensembl
Outerchr20:118321..242545hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38123925
hg19123925
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644940
Supporting Variants
SamplesNA19454
Known GenesDEFB126, DEFB127, DEFB128, DEFB129, DEFB132
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107553
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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