A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3649205



Internal ID19367213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22765947..22765947hg38UCSC Ensembl
chr8:22623460..22623460hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16473488
Samples
Known GenesPEBP4
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)esv3649205
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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