A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3659484



Internal ID19377492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9421889..9421889hg38UCSC Ensembl
chr19:9532565..9532565hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16482740
Samples
Known GenesZNF266
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)esv3659484
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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