A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744098



Internal ID9978382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9772976..9773578hg38UCSC Ensembl
Outerchr11:9794523..9795125hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763275, essv6737755, essv6677639, essv6976833
SamplesSSM050, SSM029, SSM062, SSM032
Known GenesSBF2-AS1
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)esv2744098
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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