A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3678689



Internal ID19396697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35372444..35374354hg38UCSC Ensembl
chr9:35372441..35374351hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381911
hg191911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16500024
Samples
Known GenesUNC13B
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)esv3678689
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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