A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724720



Internal ID9959022
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 StatusM
Merged Variants
Supporting Variantsessv6933140, essv6902390
SamplesSSM020, SSM012
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)esv2724720
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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