A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671380



Internal ID19389388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:81109256..81109256hg38UCSC Ensembl
chr4:82030410..82030410hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493445
Samples
Known GenesPRKG2
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)esv3671380
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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