A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6902390



Internal ID9664735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49908302..49908490hg38UCSC Ensembl
Outerchr22:50301950..50302138hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724720
Supporting Variants
SamplesSSM012
Known GenesALG12
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)essv6902390
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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