A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674140



Internal ID19392148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29486519..29486532hg38UCSC Ensembl
chr22:29882508..29882521hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3814
hg1914
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16495930
Samples
Known GenesNEFH
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)esv3674140
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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