A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432441



Internal ID15279397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29213360..29214558hg38UCSC Ensembl
Innerchr21:29213558..29214360hg38UCSC Ensembl
Outerchr21:29212360..29215558hg38UCSC Ensembl
chr21:30585681..30586879hg19UCSC Ensembl
Innerchr21:30585879..30586681hg19UCSC Ensembl
Outerchr21:30584681..30587879hg19UCSC Ensembl
chr21:29507552..29508750hg18UCSC Ensembl
Innerchr21:29508552..29507750hg18UCSC Ensembl
Outerchr21:29506552..29509750hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692677
SamplesNA19239
Known GenesLINC00189
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432441
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