A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644940



Internal ID7031691
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv770e214
Supporting Variantsessv16107554, essv16107551, essv16107552, essv16107553
SamplesHG00610, NA19917, NA19454, HG04015
Known GenesDEFB126, DEFB127, DEFB128, DEFB129, DEFB132
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644940
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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