A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16465962



Internal ID18982836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39181359..39181485hg38UCSC Ensembl
chr21:40553285..40553411hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3667452
Supporting Variants
Samples
Known GenesPSMG1
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)essv16465962
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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