A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16476421



Internal ID18993295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204528058..204528058hg38UCSC Ensembl
chr1:204497186..204497186hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3652465
Supporting Variants
Samples
Known GenesMDM4
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)essv16476421
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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