A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16480790



Internal ID18997664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48181638..48181638hg38UCSC Ensembl
chr16:48215549..48215549hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3657317
Supporting Variants
Samples
Known GenesABCC11
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)essv16480790
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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