A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675238



Internal ID13636349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:6638270..6638290hg38UCSC Ensembl
Innerchr3:6638272..6638286hg38UCSC Ensembl
Outerchr3:6638254..6638306hg38UCSC Ensembl
chr3:6679957..6679977hg19UCSC Ensembl
Innerchr3:6679959..6679973hg19UCSC Ensembl
Outerchr3:6679941..6679993hg19UCSC Ensembl
chr3:6654957..6654977hg18UCSC Ensembl
Innerchr3:6654973..6654959hg18UCSC Ensembl
Outerchr3:6654941..6654993hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374814
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675238
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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