A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744433



Internal ID9978717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46297312..46297663hg38UCSC Ensembl
Outerchr11:46318863..46319214hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944760, essv6720552, essv6695407
SamplesSSM037, SSM023, SSM044
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)esv2744433
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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