A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724436



Internal ID10308072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46621277..46622148hg38UCSC Ensembl
Outerchr22:47017174..47018045hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769381, essv6742014, essv6674985, essv6921544, essv6780672, essv6758957, essv6909898, essv6666683, essv6967667, essv6961222, essv6858956, essv6810236, essv6925522, essv6868568, essv6721828
SamplesSSM059, SSM027, SSM075, SSM064, SSM087, SSM018, SSM029, SSM026, SSM089, SSM017, SSM031, SSM067, SSM044, SSM014, SSM052
Known Genes
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)esv2724436
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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