A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3657592



Internal ID19375600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17242027..17242202hg38UCSC Ensembl
chr19:17352836..17353011hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16481037
Samples
Known GenesNR2F6
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)esv3657592
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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