A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3654802



Internal ID19372810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33331526..33331526hg38UCSC Ensembl
chr13:33905663..33905663hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16478525
Samples
Known GenesSTARD13
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)esv3654802
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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