A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16500249



Internal ID19363809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125409960..125410128hg38UCSC Ensembl
chr9:128172239..128172407hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3678938
Supporting Variants
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)essv16500249
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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