A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862147



Internal ID9911570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:864799..1489644hg38UCSC Ensembl
Outerchr11:864799..1510874hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38624846
hg19646076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743878
Supporting Variants
SamplesSSM088
Known GenesAP2A2, BRSK2, CHID1, MIR6744, MOB2, MUC2, MUC5B, MUC6, TOLLIP, TOLLIP-AS1, TSPAN4
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)essv6862147
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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