A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3681213



Internal ID19399221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126180268..126181009hg38UCSC Ensembl
chr12:126664814..126665555hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16502297
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)esv3681213
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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