A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16473720



Internal ID18990594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156470414..156470414hg38UCSC Ensembl
chr1:156440206..156440206hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3649463
Supporting Variants
Samples
Known GenesMEF2D
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)essv16473720
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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