A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305555



Internal ID14805817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14280532..14280533hg38UCSC Ensembl
Innerchr21:14280515..14280550hg38UCSC Ensembl
Outerchr21:14280514..14280551hg38UCSC Ensembl
chr21:15652853..15652854hg19UCSC Ensembl
Innerchr21:15652836..15652871hg19UCSC Ensembl
Outerchr21:15652835..15652872hg19UCSC Ensembl
chr21:14574724..14574725hg18UCSC Ensembl
Innerchr21:14574742..14574707hg18UCSC Ensembl
Outerchr21:14574706..14574743hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7772300, essv7820512, essv7801363, essv7826413, essv7773135, essv7825298, essv7828683, essv7809827, essv7780074, essv7834882, essv7792267, essv7776443, essv7793621, essv7813467, essv7802296, essv7774236, essv7790662, essv7808812, essv7786969, essv7834025, essv7799252, essv7833785, essv7821515, essv7811799, essv7793835, essv7782591, essv7800077, essv7772045, essv7809628, essv7812405, essv7819426, essv7801879
SamplesNA11881, NA12154, NA12043, NA07347, NA18520, NA18561, NA10847, NA12287, NA19147, NA18912, NA11840, NA12004, NA11994, NA12873, NA12814, NA11831, NA11894, NA12144, NA12751, NA07346, NA12872, NA12891, NA10851, NA18552, NA12812, NA12156, NA12003, NA18499, NA18571, NA12045, NA12717, NA07000
Known GenesABCC13
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305555
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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