A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16173374



Internal ID6061922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31257358..31413171hg38UCSC Ensembl
chr20:29845161..30000974hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38155814
hg19155814
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645644
Supporting Variants
SamplesNA19454
Known GenesDEFB115, DEFB116, DEFB118, DEFB119, DEFB121
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16173374
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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