A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961181



Internal ID9716719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33355644..33355772hg38UCSC Ensembl
Outerchr22:33751630..33751758hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724157, esv2724158
Supporting Variants
SamplesSSM026
Known GenesLARGE
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)essv6961181
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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