A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16471821



Internal ID19335381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170394417..170394417hg38UCSC Ensembl
chr6:170703505..170703505hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3687494
Supporting Variants
Samples
Known GenesFAM120B
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)essv16471821
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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