A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16469128



Internal ID19332688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172357634..172357634hg38UCSC Ensembl
chr4:173278785..173278785hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3684501
Supporting Variants
Samples
Known GenesGALNTL6
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)essv16469128
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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