A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800105



Internal ID10202348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72150559..72150870hg38UCSC Ensembl
Outerchr11:71861603..71861914hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744761, esv2744762
Supporting Variants
SamplesSSM072
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)essv6800105
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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