A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14229729



Internal ID2513236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:89682699..89710298hg38UCSC Ensembl
chr11:89415867..89443466hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3827600
hg1927600
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627176
Supporting Variants
SamplesHG02231
Known GenesFOLH1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14229729
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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