A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3686969



Internal ID19404977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234513634..234513852hg38UCSC Ensembl
chr1:234649380..234649598hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16471349
Samples
Known Genes
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)esv3686969
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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