A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804732



Internal ID9656404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64270703..64270980hg38UCSC Ensembl
Outerchr11:64038175..64038452hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744616, esv2744615
Supporting Variants
SamplesSSM009
Known GenesBAD
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)essv6804732
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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