A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744688



Internal ID10325658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69497764..69498590hg38UCSC Ensembl
Outerchr11:69312532..69313358hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791753, essv6684983, essv6768416, essv6702334, essv6920042, essv6716688, essv6948972, essv6916030, essv6970683, essv6959100
SamplesSSM024, SSM064, SSM039, SSM028, SSM026, SSM017, SSM016, SSM070, SSM034, SSM043
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)esv2744688
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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