A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3680633



Internal ID19398641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219941483..219941556hg38UCSC Ensembl
chr1:220114825..220114898hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16501774
Samples
Known GenesRNU5F-1
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)esv3680633
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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