A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14250757



Internal ID5961344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:100258831..100325467hg38UCSC Ensembl
chr11:100129563..100196199hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3866637
hg1966637
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627476
Supporting Variants
SamplesNA19377
Known GenesCNTN5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14250757
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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