A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694898



Internal ID9993946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44904569..44904871hg38UCSC Ensembl
Outerchr22:45300449..45300751hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724385
Supporting Variants
SamplesSSM005
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)essv6694898
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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