A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344252



Internal ID14844519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823955..37823955hg38UCSC Ensembl
Innerchr21:37823954..37823956hg38UCSC Ensembl
Outerchr21:37823915..37823975hg38UCSC Ensembl
chr21:39196257..39196257hg19UCSC Ensembl
Innerchr21:39196256..39196258hg19UCSC Ensembl
Outerchr21:39196217..39196277hg19UCSC Ensembl
chr21:38118127..38118127hg18UCSC Ensembl
Innerchr21:38118128..38118126hg18UCSC Ensembl
Outerchr21:38118087..38118147hg18UCSC 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 Variantsessv8644914
Samples
Known GenesKCNJ6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344252
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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