A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823447



Internal ID10224584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3103567..3104041hg38UCSC Ensembl
Outerchr11:3124797..3125271hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744027
Supporting Variants
SamplesSSM079
Known GenesOSBPL5
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)essv6823447
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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