A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609800



Internal ID6650028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84680799..84734077hg38UCSC Ensembl
chr6:85390517..85443795hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3853279
hg1953279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12454261
SamplesHG02146
Known GenesTBX18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609800
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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