A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3666147



Internal ID19384155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43988356..43988356hg38UCSC Ensembl
chr1:44454028..44454028hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16488736
Samples
Known GenesB4GALT2
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)esv3666147
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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