A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3669940



Internal ID19387948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29827899..29827955hg38UCSC Ensembl
chr22:30223888..30223944hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16466186
Samples
Known GenesASCC2
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)esv3669940
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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