A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733293



Internal ID9795840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25348850..25349244hg38UCSC Ensembl
Outerchr22:25744817..25745211hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724086, esv2724085, esv2724081
Supporting Variants
SamplesSSM047
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)essv6733293
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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