A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683351



Internal ID19401359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121849929..121850003hg38UCSC Ensembl
chr3:121568776..121568850hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16468093
Samples
Known GenesEAF2
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)esv3683351
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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