A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745066



Internal ID10326036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:110648011..110648476hg38UCSC Ensembl
Outerchr11:110518734..110519199hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702380, essv6779392, essv6741008, essv6720618, essv6938429
SamplesSSM039, SSM003, SSM067, SSM044, SSM052
Known GenesARHGAP20
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)esv2745066
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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