A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745092



Internal ID9979376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:113935095..113935475hg38UCSC Ensembl
Outerchr11:113805817..113806197hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894589, essv6677749
SamplesSSM032, SSM098
Known GenesHTR3B
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)esv2745092
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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