A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303445



Internal ID15150393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:6638269..6638270hg38UCSC Ensembl
Innerchr3:6638240..6638299hg38UCSC Ensembl
Outerchr3:6638239..6638300hg38UCSC Ensembl
chr3:6679956..6679957hg19UCSC Ensembl
Innerchr3:6679927..6679986hg19UCSC Ensembl
Outerchr3:6679926..6679987hg19UCSC Ensembl
chr3:6654956..6654957hg18UCSC Ensembl
Innerchr3:6654986..6654927hg18UCSC Ensembl
Outerchr3:6654926..6654987hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7748532, essv7751345, essv7741973, essv7758118, essv7750977, essv7752626, essv7757743, essv7742997
SamplesNA12717, NA12750, NA12891, NA12156, NA12878, NA18572, NA11919, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303445
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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