A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731332



Internal ID15044850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6022234..6022307hg38UCSC Ensembl
Innerchr2:6022270..6022271hg38UCSC Ensembl
Outerchr2:6022134..6022407hg38UCSC Ensembl
chr2:6162366..6162439hg19UCSC Ensembl
Innerchr2:6162402..6162403hg19UCSC Ensembl
Outerchr2:6162266..6162539hg19UCSC Ensembl
chr2:6079817..6079890hg18UCSC Ensembl
Innerchr2:6079854..6079853hg18UCSC Ensembl
Outerchr2:6079717..6079990hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302479
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731332
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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