A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3653399



Internal ID19024721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220166721..220166721hg38UCSC Ensembl
chr1:220340063..220340063hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16477263
Samples
Known GenesRAB3GAP2
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)esv3653399
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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