A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610485



Internal ID6997402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117101682..117113062hg38UCSC Ensembl
chr6:117422845..117434225hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3811381
hg1911381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12513046, essv12513047
SamplesHG02215, NA19439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610485
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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