A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909898



Internal ID10017630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46621526..46621628hg38UCSC Ensembl
Outerchr22:47017423..47017525hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724437, esv2724436, esv2724438
Supporting Variants
SamplesSSM014
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)essv6909898
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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