A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9680369



Internal ID13619562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33344473..33344492hg38UCSC Ensembl
Innerchr21:33344469..33344496hg38UCSC Ensembl
Outerchr21:33344450..33344515hg38UCSC Ensembl
chr21:34716779..34716798hg19UCSC Ensembl
Innerchr21:34716775..34716802hg19UCSC Ensembl
Outerchr21:34716756..34716821hg19UCSC Ensembl
chr21:33638649..33638668hg18UCSC Ensembl
Innerchr21:33638672..33638645hg18UCSC Ensembl
Outerchr21:33638626..33638691hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326389
Supporting Variants
SamplesNA12874
Known GenesIFNAR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9680369
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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