A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694060



Internal ID15078966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198228184..198235559hg38UCSC Ensembl
Innerchr3:198229184..198234582hg38UCSC Ensembl
Outerchr3:198227184..198235559hg38UCSC Ensembl
chr3:197955055..197962430hg19UCSC Ensembl
Innerchr3:197956055..197961453hg19UCSC Ensembl
Outerchr3:197954055..197962430hg19UCSC Ensembl
chr3:199439452..199446850hg18UCSC Ensembl
Innerchr3:199440452..199445850hg18UCSC Ensembl
Outerchr3:199438452..199447850hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387376
hg197376
hg187399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3428779
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694060
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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