A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6815165



Internal ID9658561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17834950..17835555hg38UCSC Ensembl
Outerchr22:18317716..18318321hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723955
Supporting Variants
SamplesSSM009
Known GenesMICAL3
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)essv6815165
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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