A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673076



Internal ID9743705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131392267..131392375hg38UCSC Ensembl
Outerchr11:131262162..131262270hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745268
Supporting Variants
SamplesSSM031
Known GenesNTM
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)essv6673076
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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