A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14165833



Internal ID740109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:56053534..56249437hg38UCSC Ensembl
chr11:55821010..56016913hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38195904
hg19195904
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626472
Supporting Variants
SamplesHG00346
Known GenesOR5J2, OR5T2, OR8H2, OR8H3, OR8I2, OR8J3, OR8K5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14165833
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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