A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16499968



Internal ID19016842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19068254..19068375hg38UCSC Ensembl
chr9:19068252..19068373hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3678626
Supporting Variants
Samples
Known GenesHAUS6
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)essv16499968
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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