A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652138



Internal ID14755279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37707713..37707831hg38UCSC Ensembl
Innerchr21:37707713..37707831hg38UCSC Ensembl
Outerchr21:37706871..37708528hg38UCSC Ensembl
chr21:39080015..39080133hg19UCSC Ensembl
Innerchr21:39080015..39080133hg19UCSC Ensembl
Outerchr21:39079173..39080830hg19UCSC Ensembl
chr21:38001885..38002003hg18UCSC Ensembl
Innerchr21:38001885..38002003hg18UCSC Ensembl
Outerchr21:38001043..38002700hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432776
Supporting Variants
SamplesNA19240
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652138
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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