A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310568



Internal ID14810833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49421165..49421165hg38UCSC Ensembl
Outerchr3:49421165..49421165hg38UCSC Ensembl
Innerchr3:49458598..49458598hg19UCSC Ensembl
Outerchr3:49458598..49458598hg19UCSC Ensembl
Innerchr3:49433602..49433602hg18UCSC Ensembl
Outerchr3:49433602..49433602hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38559
hg19559
hg18559
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843608, essv7843625, essv7843590
SamplesNA12891, NA12878, NA12892
Known GenesAMT
MethodSequencing
AnalysisSOAP de-novo
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310568
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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