A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16482184



Internal ID18999058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22199900..22199900hg38UCSC Ensembl
chr18:19779862..19779862hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3658866
Supporting Variants
Samples
Known GenesGATA6
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)essv16482184
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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