A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627117



Internal ID7013947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:87171106..87211483hg38UCSC Ensembl
chr11:86882148..86922525hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3840378
hg1940378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14223529, essv14223530
SamplesNA18947, HG02085
Known GenesTMEM135
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627117
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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