A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16471514



Internal ID19335074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132610908..132610908hg38UCSC Ensembl
chr6:132932047..132932047hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3687153
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)essv16471514
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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