A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16480820



Internal ID19344380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53082254..53082254hg38UCSC Ensembl
chr16:53116166..53116166hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3657351
Supporting Variants
Samples
Known GenesCHD9
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)essv16480820
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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