A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683015



Internal ID19054337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173231885..173232009hg38UCSC Ensembl
chr1:173201024..173201148hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16463750
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)esv3683015
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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