A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3681045



Internal ID19399053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94950280..94950591hg38UCSC Ensembl
chr12:95344056..95344367hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16502145
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)esv3681045
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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