A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3654331



Internal ID19025653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109859473..109859473hg38UCSC Ensembl
chr12:110297278..110297278hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16478101
Samples
Known GenesGLTP
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)esv3654331
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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