A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674610



Internal ID19045932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197518574..197518733hg38UCSC Ensembl
chr2:198383298..198383457hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496352
Samples
Known GenesHSPE1-MOB4, MOB4
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)esv3674610
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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