A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398083



Internal ID14898360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37824372..37824386hg38UCSC Ensembl
Innerchr21:37824371..37824387hg38UCSC Ensembl
Outerchr21:37824322..37824436hg38UCSC Ensembl
chr21:39196674..39196688hg19UCSC Ensembl
Innerchr21:39196673..39196689hg19UCSC Ensembl
Outerchr21:39196624..39196738hg19UCSC Ensembl
chr21:38118544..38118558hg18UCSC Ensembl
Innerchr21:38118559..38118543hg18UCSC Ensembl
Outerchr21:38118494..38118608hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg381398
hg191398
hg181398
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740999
SamplesNA12878
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398083
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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