A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306917



Internal ID14807179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103921858..103921859hg38UCSC Ensembl
Innerchr11:103921836..103921881hg38UCSC Ensembl
Outerchr11:103921835..103921882hg38UCSC Ensembl
chr11:103792586..103792587hg19UCSC Ensembl
Innerchr11:103792564..103792609hg19UCSC Ensembl
Outerchr11:103792563..103792610hg19UCSC Ensembl
chr11:103297796..103297797hg18UCSC Ensembl
Innerchr11:103297819..103297774hg18UCSC Ensembl
Outerchr11:103297773..103297820hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38305
hg19305
hg18305
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766681, essv7766380, essv7769319, essv7767214, essv7765545, essv7763557, essv7764486, essv7767077, essv7765212, essv7769169, essv7767466, essv7768631
SamplesNA12814, NA11931, NA12045, NA12891, NA07347, NA18970, NA19238, NA19239, NA11840, NA12249, NA12892, NA19240
Known GenesPDGFD
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306917
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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