A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724723



Internal ID10308359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49938290..49939201hg38UCSC Ensembl
Outerchr22:50331938..50332849hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933141, essv6832439, essv6902391, essv6750510, essv6773310, essv6758969, essv6877583, essv6868585, essv6793133, essv6699496, essv6901497, essv6937513
SamplesSSM100, SSM059, SSM065, SSM038, SSM092, SSM021, SSM089, SSM081, SSM020, SSM070, SSM056, SSM012
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)esv2724723
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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