A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625486



Internal ID6665633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18063331..18085973hg38UCSC Ensembl
chr11:18084878..18107520hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3822643
hg1922643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14040183
SamplesNA19222
Known GenesSAAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625486
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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