A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3663647



Internal ID19034969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178092603..178092603hg38UCSC Ensembl
chr2:178957330..178957330hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16486486
Samples
Known GenesPDE11A
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)esv3663647
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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