A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740995



Internal ID13640772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10471385..10471423hg38UCSC Ensembl
Innerchr21:10471384..10471424hg38UCSC Ensembl
Outerchr21:10471335..10471473hg38UCSC Ensembl
chr21:11041034..11041072hg19UCSC Ensembl
Innerchr21:11041033..11041073hg19UCSC Ensembl
Outerchr21:11040984..11041122hg19UCSC Ensembl
chr21:10062905..10062943hg18UCSC Ensembl
Innerchr21:10062944..10062904hg18UCSC Ensembl
Outerchr21:10062855..10062993hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg381044
hg191044
hg181044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412511
Supporting Variants
SamplesNA12878
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740995
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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