A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610393



Internal ID6997310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112318840..112366744hg38UCSC Ensembl
chr6:112640042..112687946hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3847905
hg1947905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12505691
SamplesHG02817
Known GenesRFPL4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610393
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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