A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3649283



Internal ID19367291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31147884..31147884hg38UCSC Ensembl
chr8:31005400..31005400hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16473558
Samples
Known GenesWRN
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)esv3649283
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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