A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744701



Internal ID9978985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69966936..69967454hg38UCSC Ensembl
Outerchr11:69813042..69813560hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940217, essv6672975, essv6787653, essv6823536, essv6783464, essv6702338, essv6970687, essv6851004
SamplesSSM079, SSM039, SSM028, SSM069, SSM031, SSM086, SSM068, SSM022
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)esv2744701
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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