A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698703



Internal ID9764935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106725156..106725433hg38UCSC Ensembl
Outerchr11:106595882..106596159hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745035
Supporting Variants
SamplesSSM038
Known GenesGUCY1A2
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)essv6698703
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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