A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671132



Internal ID19389140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124922700..124922700hg38UCSC Ensembl
chr3:124641547..124641547hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493223
Samples
Known GenesMUC13
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)esv3671132
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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