A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477698



Internal ID18994572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53317524..53317524hg38UCSC Ensembl
chr12:53711308..53711308hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653882
Supporting Variants
Samples
Known GenesAAAS
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)essv16477698
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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