A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608462



Internal ID6648700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28823807..28840551hg38UCSC Ensembl
chr6:28791584..28808328hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3816745
hg1916745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12239540, essv12239539
SamplesHG03910, NA18541
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608462
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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