A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6810214



Internal ID9864911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26772122..26773816hg38UCSC Ensembl
Outerchr22:27168085..27169779hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381695
hg191695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724096
Supporting Variants
SamplesSSM075
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6810214
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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