A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3669728



Internal ID19041050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57628849..57628849hg38UCSC Ensembl
chr16:57662761..57662761hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16491960
Samples
Known GenesGPR56
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3669728
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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