A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307290



Internal ID14807552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108174474..108174475hg38UCSC Ensembl
Innerchr3:108174457..108174492hg38UCSC Ensembl
Outerchr3:108174456..108174493hg38UCSC Ensembl
chr3:107893321..107893322hg19UCSC Ensembl
Innerchr3:107893304..107893339hg19UCSC Ensembl
Outerchr3:107893303..107893340hg19UCSC Ensembl
chr3:109376011..109376012hg18UCSC Ensembl
Innerchr3:109376029..109375994hg18UCSC Ensembl
Outerchr3:109375993..109376030hg18UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg38253
hg19253
hg18253
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7834076, essv7785458, essv7778451, essv7790813, essv7815375, essv7788239, essv7831419, essv7816234, essv7793664, essv7770970, essv7824035, essv7836613, essv7800205, essv7782071, essv7827701, essv7799691, essv7814902, essv7801193, essv7788714, essv7780978, essv7802938, essv7797551, essv7775756
SamplesNA19141, NA12717, NA18510, NA19005, NA11992, NA18582, NA19239, NA11993, NA18555, NA18570, NA18608, NA12716, NA11881, NA19240, NA07051, NA07037, NA06986, NA12749, NA19116, NA18552, NA07000, NA12154, NA12776
Known GenesIFT57
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307290
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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