A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944760



Internal ID9706688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46297474..46297600hg38UCSC Ensembl
Outerchr11:46319025..46319151hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744433, esv2744434
Supporting Variants
SamplesSSM023
Known GenesCREB3L1
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)essv6944760
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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