A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863739



Internal ID10256824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:27221210..27221294hg38UCSC Ensembl
Outerchr22:27617171..27617255hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724105, esv2724103
Supporting Variants
SamplesSSM088
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)essv6863739
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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