A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671027



Internal ID19389035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46620352..46620352hg38UCSC Ensembl
chr3:46661842..46661842hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493129
Samples
Known GenesLOC100132146
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)esv3671027
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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