A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432323



Internal ID14932593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823948..37823948hg38UCSC Ensembl
Innerchr21:37823947..37823949hg38UCSC Ensembl
Outerchr21:37823888..37823998hg38UCSC Ensembl
chr21:39196250..39196250hg19UCSC Ensembl
Innerchr21:39196249..39196251hg19UCSC Ensembl
Outerchr21:39196190..39196300hg19UCSC Ensembl
chr21:38118120..38118120hg18UCSC Ensembl
Innerchr21:38118121..38118119hg18UCSC Ensembl
Outerchr21:38118060..38118170hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8826801
SamplesNA19240
Known GenesKCNJ6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432323
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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