A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843422



Internal ID13275850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823950..37823950hg38UCSC Ensembl
chr21:39196252..39196252hg19UCSC Ensembl
chr21:38118122..38118122hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310566
Supporting Variants
SamplesNA12878
Known GenesKCNJ6
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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