A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743958



Internal ID10324928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1684423..1685025hg38UCSC Ensembl
Outerchr11:1705653..1706255hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743884, essv6953027, essv6787576
SamplesSSM069, SSM053, SSM025
Known GenesFAM99B, MOB2
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)esv2743958
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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