A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626466



Internal ID7013298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55985222..56112918hg38UCSC Ensembl
chr11:55752698..55880394hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38127697
hg19127697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14165665, essv14165661, essv14165656, essv14165658, essv14165654, essv14165664, essv14165666, essv14165662, essv14165653, essv14165663, essv14165659, essv14165655, essv14165660, essv14165657
SamplesHG03163, HG03111, HG03130, HG03193, HG03133, HG03189, HG03114, HG02977, HG03311, HG03136, NA18876, NA19213, NA18488, HG03166
Known GenesOR5AS1, OR5F1, OR7E5P, OR8H2, OR8I2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626466
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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