A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16489129



Internal ID19352689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:110213904..110213904hg38UCSC Ensembl
chr4:111135060..111135060hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3666583
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)essv16489129
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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