A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14241791



Internal ID4243607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94175705..94215478hg38UCSC Ensembl
chr11:93908871..93948644hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3839774
hg1939774
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627313
Supporting Variants
SamplesHG04006
Known GenesPANX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14241791
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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