A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6731948



Internal ID10142233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5763320..5788040hg38UCSC Ensembl
Outerchr11:5784550..5809270hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3824721
hg1924721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744067
Supporting Variants
SamplesSSM047
Known GenesOR52N1, OR52N5
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)essv6731948
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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