A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3660760



Internal ID19032082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44546560..44546560hg38UCSC Ensembl
chr20:43175201..43175201hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16483888
Samples
Known GenesPKIG
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)esv3660760
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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