A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609294



Internal ID6996216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65187713..65235763hg38UCSC Ensembl
chr6:65897606..65945656hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3848051
hg1948051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12392841
SamplesHG03802
Known GenesEYS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609294
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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