A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3679860



Internal ID19051182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202003559..202003629hg38UCSC Ensembl
chr1:201972687..201972757hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16501079
Samples
Known GenesRNPEP
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)esv3679860
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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