A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3660638



Internal ID19031960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32825149..32825149hg38UCSC Ensembl
chr20:31412955..31412955hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16483778
Samples
Known GenesMAPRE1
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)esv3660638
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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