A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674283



Internal ID13368140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14280542..14280572hg38UCSC Ensembl
Innerchr21:14280549..14280563hg38UCSC Ensembl
Outerchr21:14280519..14280595hg38UCSC Ensembl
chr21:15652863..15652893hg19UCSC Ensembl
Innerchr21:15652870..15652884hg19UCSC Ensembl
Outerchr21:15652840..15652916hg19UCSC Ensembl
chr21:14574734..14574764hg18UCSC Ensembl
Innerchr21:14574755..14574741hg18UCSC Ensembl
Outerchr21:14574711..14574787hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365195
Supporting Variants
SamplesNA12891
Known GenesABCC13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674283
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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