A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901462



Internal ID9946700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26772111..26773857hg38UCSC Ensembl
Outerchr22:27168074..27169820hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381747
hg191747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724096
Supporting Variants
SamplesSSM100
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)essv6901462
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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