A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387523



Internal ID15234492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38243707..38243707hg38UCSC Ensembl
Innerchr21:38243706..38243708hg38UCSC Ensembl
Outerchr21:38243657..38243757hg38UCSC Ensembl
chr21:39615629..39615629hg19UCSC Ensembl
Innerchr21:39615628..39615630hg19UCSC Ensembl
Outerchr21:39615579..39615679hg19UCSC Ensembl
chr21:38537499..38537499hg18UCSC Ensembl
Innerchr21:38537500..38537498hg18UCSC Ensembl
Outerchr21:38537449..38537549hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38701
hg19701
hg18701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653257, essv8653258, essv8653256
SamplesNA12891, NA12878, NA12892
Known GenesKCNJ15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387523
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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