A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3665637



Internal ID19383645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37980425..37980425hg38UCSC Ensembl
chr1:38446097..38446097hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16488278
Samples
Known GenesSF3A3
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)esv3665637
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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