A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14295207



Internal ID2295691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120564547..120576437hg38UCSC Ensembl
chr11:120435256..120447146hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3811891
hg1911891
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627907
Supporting Variants
SamplesHG02051
Known GenesGRIK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14295207
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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