A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745028



Internal ID10325998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106638149..106638331hg38UCSC Ensembl
Outerchr11:106508875..106509057hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775633, essv6712922, essv6870671, essv6953147, essv6924256, essv6677742, essv6931757, essv6691528
SamplesSSM036, SSM042, SSM090, SSM018, SSM032, SSM066, SSM020, SSM025
Known Genes
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)esv2745028
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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