A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608300



Internal ID6995230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20663937..20716141hg38UCSC Ensembl
chr6:20664168..20716372hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3852205
hg1952205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12218504
SamplesHG00278
Known GenesCDKAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608300
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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