A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683667



Internal ID19401675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196334794..196334866hg38UCSC Ensembl
chr3:196061665..196061737hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16468377
Samples
Known GenesTM4SF19, TM4SF19-TCTEX1D2
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)esv3683667
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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