A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737721



Internal ID9652056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:113934849..113935669hg38UCSC Ensembl
Outerchr11:113805571..113806391hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745091
Supporting Variants
SamplesSSM007
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)essv6737721
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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