A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864117



Internal ID13316588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32331553..32331563hg38UCSC Ensembl
Innerchr3:32331556..32331560hg38UCSC Ensembl
Outerchr3:32331546..32331570hg38UCSC Ensembl
chr3:32373045..32373055hg19UCSC Ensembl
Innerchr3:32373048..32373052hg19UCSC Ensembl
Outerchr3:32373038..32373062hg19UCSC Ensembl
chr3:32348049..32348059hg18UCSC Ensembl
Innerchr3:32348056..32348052hg18UCSC Ensembl
Outerchr3:32348042..32348066hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365412
Supporting Variants
SamplesNA12005
Known GenesCMTM8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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