A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14286893



Internal ID4288709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111293219..111297467hg38UCSC Ensembl
chr11:111163944..111168192hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg384249
hg194249
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627732
Supporting Variants
SamplesNA19700
Known GenesCOLCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14286893
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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