A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363383



Internal ID14863644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10394444..10394451hg38UCSC Ensembl
Innerchr21:10394446..10394449hg38UCSC Ensembl
Outerchr21:10394442..10394453hg38UCSC Ensembl
chr21:11118006..11118013hg19UCSC Ensembl
Innerchr21:11118008..11118011hg19UCSC Ensembl
Outerchr21:11118004..11118015hg19UCSC Ensembl
chr21:10139877..10139884hg18UCSC Ensembl
Innerchr21:10139879..10139882hg18UCSC Ensembl
Outerchr21:10139875..10139886hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866190, essv7866191
SamplesNA11992, NA18953
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363383
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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