A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626472



Internal ID7013304
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv200e214
Supporting Variantsessv14165834, essv14165835, essv14165833
SamplesHG00346, HG01620, HG00371
Known GenesOR5J2, OR5T2, OR8H2, OR8H3, OR8I2, OR8J3, OR8K5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626472
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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