A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16486492



Internal ID19003366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20635672..20635672hg38UCSC Ensembl
chr1:20962165..20962165hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3663654
Supporting Variants
Samples
Known GenesPINK1
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)essv16486492
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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