A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304273



Internal ID14804535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33350731..33350732hg38UCSC Ensembl
Innerchr2:33350701..33350762hg38UCSC Ensembl
Outerchr2:33350700..33350763hg38UCSC Ensembl
chr2:33575798..33575799hg19UCSC Ensembl
Innerchr2:33575768..33575829hg19UCSC Ensembl
Outerchr2:33575767..33575830hg19UCSC Ensembl
chr2:33429302..33429303hg18UCSC Ensembl
Innerchr2:33429333..33429272hg18UCSC Ensembl
Outerchr2:33429271..33429334hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761022, essv7752219, essv7757100, essv7750981, essv7753153, essv7751934
SamplesNA12750, NA07346, NA11993, NA12003, NA12716, NA06986
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304273
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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