A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410541



Internal ID14910815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37632244..37632258hg38UCSC Ensembl
Innerchr21:37632240..37632260hg38UCSC Ensembl
Outerchr21:37632226..37632274hg38UCSC Ensembl
chr21:39004546..39004560hg19UCSC Ensembl
Innerchr21:39004542..39004562hg19UCSC Ensembl
Outerchr21:39004528..39004576hg19UCSC Ensembl
chr21:37926416..37926430hg18UCSC Ensembl
Innerchr21:37926432..37926412hg18UCSC Ensembl
Outerchr21:37926398..37926446hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674337, essv8674338
SamplesNA12891, NA12878
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410541
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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