A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828810



Internal ID9882725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23448632..23448870hg38UCSC Ensembl
Outerchr22:23790819..23791057hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724041, esv2724049
Supporting Variants
SamplesSSM080
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)essv6828810
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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