A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743857



Internal ID3291809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:640066..640294hg38UCSC Ensembl
Outerchr11:640066..640294hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834705, essv6842254, essv6800001, essv6720496, essv6731920
SamplesSSM082, SSM084, SSM072, SSM047, SSM044
Known GenesDRD4
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)esv2743857
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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