A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645645



Internal ID7032394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31257358..31413171hg38UCSC Ensembl
chr20:29845161..30000974hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38155814
hg19155814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16173378, essv16173377, essv16173375, essv16173376
SamplesHG04180, HG04141, HG03279, HG04153
Known GenesDEFB115, DEFB116, DEFB118, DEFB119, DEFB121
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645645
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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