A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3670808



Internal ID19042130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121221607..121221607hg38UCSC Ensembl
chr2:121979183..121979183hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16492931
Samples
Known GenesTFCP2L1
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)esv3670808
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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