A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841066



Internal ID13720846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46509299..46509300hg38UCSC Ensembl
Innerchr3:46509281..46509318hg38UCSC Ensembl
Outerchr3:46509280..46509319hg38UCSC Ensembl
chr3:46550789..46550790hg19UCSC Ensembl
Innerchr3:46550771..46550808hg19UCSC Ensembl
Outerchr3:46550770..46550809hg19UCSC Ensembl
chr3:46525793..46525794hg18UCSC Ensembl
Innerchr3:46525812..46525775hg18UCSC Ensembl
Outerchr3:46525774..46525813hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308477
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841066
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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