A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662117



Internal ID19033439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:43684879..43684879hg38UCSC Ensembl
chrX:43544127..43544127hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485109
Samples
Known GenesMAOA
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)esv3662117
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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