A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365274



Internal ID14865534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38507635..38508262hg38UCSC Ensembl
Innerchr21:38507635..38508262hg38UCSC Ensembl
Outerchr21:38507628..38508310hg38UCSC Ensembl
chr21:39879559..39880186hg19UCSC Ensembl
Innerchr21:39879559..39880186hg19UCSC Ensembl
Outerchr21:39879552..39880234hg19UCSC Ensembl
chr21:38801429..38802056hg18UCSC Ensembl
Innerchr21:38801429..38802056hg18UCSC Ensembl
Outerchr21:38801422..38802104hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38628
hg19628
hg18628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652139
SamplesNA19240
Known GenesERG
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365274
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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