A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867048



Internal ID9917138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106915513..106918829hg38UCSC Ensembl
Outerchr11:106786239..106789555hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383317
hg193317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745037
Supporting Variants
SamplesSSM089
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)essv6867048
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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