A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16488080



Internal ID19351640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170570127..170570127hg38UCSC Ensembl
chr3:170287916..170287916hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3665417
Supporting Variants
Samples
Known GenesSLC7A14
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)essv16488080
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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