A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16492968



Internal ID19356528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137941135..137941135hg38UCSC Ensembl
chr2:138698705..138698705hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3670848
Supporting Variants
Samples
Known Genes
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)essv16492968
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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