A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744609



Internal ID9978893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63146465..63268849hg38UCSC Ensembl
Outerchr11:62913937..63036321hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38122385
hg19122385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819558, essv6713154, essv6737815
SamplesSSM050, SSM001, SSM078
Known GenesMIR3680-1, MIR3680-2, SLC22A25
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)esv2744609
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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