A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12643450



Internal ID2645266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167323380..167358297hg38UCSC Ensembl
chr6:167736868..167771785hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3834918
hg1934918
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611660
Supporting Variants
SamplesHG02511
Known GenesTTLL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12643450
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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