A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16482201



Internal ID19345761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25108738..25108738hg38UCSC Ensembl
chr18:22688702..22688702hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3658886
Supporting Variants
Samples
Known GenesZNF521
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)essv16482201
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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