A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666675



Internal ID10080157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44904592..44904847hg38UCSC Ensembl
Outerchr22:45300472..45300727hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724385
Supporting Variants
SamplesSSM029
Known GenesPHF21B
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)essv6666675
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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