A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304824



Internal ID14805086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131454692..131454693hg38UCSC Ensembl
Innerchr11:131454611..131454774hg38UCSC Ensembl
Outerchr11:131454610..131454775hg38UCSC Ensembl
chr11:131324586..131324587hg19UCSC Ensembl
Innerchr11:131324505..131324668hg19UCSC Ensembl
Outerchr11:131324504..131324669hg19UCSC Ensembl
chr11:130829796..130829797hg18UCSC Ensembl
Innerchr11:130829878..130829715hg18UCSC Ensembl
Outerchr11:130829714..130829879hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7751977, essv7743364, essv7762822, essv7759514, essv7742598
SamplesNA10847, NA07051, NA12716, NA11829, NA07000
Known GenesNTM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304824
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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