A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3654473



Internal ID19372481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232366671..232366671hg38UCSC Ensembl
chr1:232502417..232502417hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16478230
Samples
Known Genes
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)esv3654473
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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