A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724437



Internal ID10308073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46621390..46621740hg38UCSC Ensembl
Outerchr22:47017287..47017637hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674985, essv6780672, essv6909898, essv6666683, essv6967667, essv6961222, essv6858956, essv6810236, essv6925522, essv6868568, essv6721828
SamplesSSM027, SSM075, SSM087, SSM018, SSM029, SSM026, SSM089, SSM031, SSM067, SSM044, SSM014
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)esv2724437
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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