A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671100



Internal ID14754531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169447574..169448086hg38UCSC Ensembl
Innerchr3:169447689..169447969hg38UCSC Ensembl
Outerchr3:169447457..169448201hg38UCSC Ensembl
chr3:169165362..169165874hg19UCSC Ensembl
Innerchr3:169165477..169165757hg19UCSC Ensembl
Outerchr3:169165245..169165989hg19UCSC Ensembl
chr3:170648056..170648568hg18UCSC Ensembl
Innerchr3:170648171..170648451hg18UCSC Ensembl
Outerchr3:170647939..170648683hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38513
hg19513
hg18513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3402676
Supporting Variants
SamplesNA19240
Known GenesMECOM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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