A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674708



Internal ID19392716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197924888..197925185hg38UCSC Ensembl
chr1:197894018..197894315hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16466615
Samples
Known GenesLHX9
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)esv3674708
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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