A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742997



Internal ID13198821
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 StatusS
Merged Variantsesv3303445
Supporting Variants
SamplesNA11919
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742997
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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