A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723945



Internal ID10307581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17184719..17184886hg38UCSC Ensembl
Outerchr22:17665609..17665776hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788903, essv6782565, essv6666594
SamplesSSM008, SSM069, SSM029
Known GenesCECR1
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)esv2723945
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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