A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675017



Internal ID15079294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:145805574..145805590hg38UCSC Ensembl
Innerchr3:145805569..145805592hg38UCSC Ensembl
Outerchr3:145805556..145805608hg38UCSC Ensembl
chr3:145523361..145523377hg19UCSC Ensembl
Innerchr3:145523356..145523379hg19UCSC Ensembl
Outerchr3:145523343..145523395hg19UCSC Ensembl
chr3:147006051..147006067hg18UCSC Ensembl
Innerchr3:147006069..147006046hg18UCSC Ensembl
Outerchr3:147006033..147006085hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426380
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675017
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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