A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694000



Internal ID15009743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197030084..197030582hg38UCSC Ensembl
Innerchr3:197030083..197030583hg38UCSC Ensembl
Outerchr3:197029084..197031582hg38UCSC Ensembl
chr3:196756955..196757453hg19UCSC Ensembl
Innerchr3:196756954..196757454hg19UCSC Ensembl
Outerchr3:196755955..196758453hg19UCSC Ensembl
chr3:198241352..198241850hg18UCSC Ensembl
Innerchr3:198241851..198241351hg18UCSC Ensembl
Outerchr3:198240352..198242850hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418207
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694000
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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