A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3670601



Internal ID19388609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13586132..13586132hg38UCSC Ensembl
chrX:13604251..13604251hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16492745
Samples
Known GenesEGFL6
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)esv3670601
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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