A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408153



Internal ID14908429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33350731..33350749hg38UCSC Ensembl
Innerchr2:33350731..33350747hg38UCSC Ensembl
Outerchr2:33350713..33350767hg38UCSC Ensembl
chr2:33575798..33575816hg19UCSC Ensembl
Innerchr2:33575798..33575814hg19UCSC Ensembl
Outerchr2:33575780..33575834hg19UCSC Ensembl
chr2:33429302..33429320hg18UCSC Ensembl
Innerchr2:33429318..33429302hg18UCSC Ensembl
Outerchr2:33429284..33429338hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8905483, essv8905480, essv8905479, essv8905484, essv8905482, essv8905485
SamplesNA12750, NA07346, NA12716, NA06986, NA12003, NA11993
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408153
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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