A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3650810



Internal ID19022132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113447848..113447848hg38UCSC Ensembl
chr9:116210128..116210128hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16474932
Samples
Known GenesRGS3
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)esv3650810
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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