A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6677639



Internal ID9745116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9772976..9773358hg38UCSC Ensembl
Outerchr11:9794523..9794905hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744095, esv2744098
Supporting Variants
SamplesSSM032
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)essv6677639
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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