A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414510



Internal ID14914783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60994459..60994471hg38UCSC Ensembl
Innerchr11:60994461..60994469hg38UCSC Ensembl
Outerchr11:60994457..60994473hg38UCSC Ensembl
chr11:60761931..60761943hg19UCSC Ensembl
Innerchr11:60761933..60761941hg19UCSC Ensembl
Outerchr11:60761929..60761945hg19UCSC Ensembl
chr11:60518507..60518519hg18UCSC Ensembl
Innerchr11:60518509..60518517hg18UCSC Ensembl
Outerchr11:60518505..60518521hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865489
SamplesNA12005
Known GenesCD6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414510
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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