A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424989



Internal ID15271946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37929694..37929727hg38UCSC Ensembl
Innerchr21:37929644..37929777hg38UCSC Ensembl
Outerchr21:37929611..37929810hg38UCSC Ensembl
chr21:39301997..39302030hg19UCSC Ensembl
Innerchr21:39301947..39302080hg19UCSC Ensembl
Outerchr21:39301914..39302113hg19UCSC Ensembl
chr21:38223867..38223900hg18UCSC Ensembl
Innerchr21:38223950..38223817hg18UCSC Ensembl
Outerchr21:38223784..38223983hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866215
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424989
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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