A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16484531



Internal ID19348091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28745055..28745055hg38UCSC Ensembl
chr22:29141043..29141043hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3661476
Supporting Variants
Samples
Known GenesHSCB
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)essv16484531
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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