A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961186



Internal ID9716723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36872630..36872706hg38UCSC Ensembl
Outerchr22:37268672..37268748hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724205, esv2724203, esv2724204
Supporting Variants
SamplesSSM026
Known GenesNCF4
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)essv6961186
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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