A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308942



Internal ID14809205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33179649..33179650hg38UCSC Ensembl
Innerchr2:33179632..33179667hg38UCSC Ensembl
Outerchr2:33179631..33179668hg38UCSC Ensembl
chr2:33404716..33404717hg19UCSC Ensembl
Innerchr2:33404699..33404734hg19UCSC Ensembl
Outerchr2:33404698..33404735hg19UCSC Ensembl
chr2:33258220..33258221hg18UCSC Ensembl
Innerchr2:33258238..33258203hg18UCSC Ensembl
Outerchr2:33258202..33258239hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842824, essv7841902
SamplesNA19238, NA19240
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308942
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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