A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626467



Internal ID7013299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55985222..56112918hg38UCSC Ensembl
chr11:55752698..55880394hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38127697
hg19127697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14165668, essv14165667, essv14165670, essv14165669
SamplesHG00346, HG03563, HG01620, HG00371
Known GenesOR5AS1, OR5F1, OR7E5P, OR8H2, OR8I2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626467
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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