A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368843



Internal ID14869102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34865270..34865270hg38UCSC Ensembl
Innerchr21:34865269..34865271hg38UCSC Ensembl
Outerchr21:34865220..34865320hg38UCSC Ensembl
chr21:36237567..36237567hg19UCSC Ensembl
Innerchr21:36237566..36237568hg19UCSC Ensembl
Outerchr21:36237517..36237617hg19UCSC Ensembl
chr21:35159437..35159437hg18UCSC Ensembl
Innerchr21:35159438..35159436hg18UCSC Ensembl
Outerchr21:35159387..35159487hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38410
hg19410
hg18410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741004
SamplesNA19240
Known GenesRUNX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368843
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer