A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683834



Internal ID19401842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72577794..72577850hg38UCSC Ensembl
chr11:72288838..72288894hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16468527
Samples
Known GenesPDE2A
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)esv3683834
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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