A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16471011



Internal ID18987885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53972488..53972488hg38UCSC Ensembl
chr6:53837286..53837286hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3686594
Supporting Variants
Samples
Known Genes
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)essv16471011
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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