A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625830



Internal ID6665978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:31513026..31809558hg38UCSC Ensembl
chr11:31534573..31831106hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38296533
hg19296534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14079499
SamplesHG01447
Known GenesELP4, PAX6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625830
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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