A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744932



Internal ID10325902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94674218..94674858hg38UCSC Ensembl
Outerchr11:94407384..94408024hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870661, essv6724417, essv6931743
SamplesSSM045, SSM090, SSM020
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)esv2744932
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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