A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3687041



Internal ID19405049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118304985..118304985hg38UCSC Ensembl
chr6:118626148..118626148hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16471413
Samples
Known GenesSLC35F1
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)esv3687041
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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